Patient record

VP-10708

35-44 · Female · Cascade testing following a family result

LowEvidence weakened

Accumulated evidence now favours a more benign interpretation than the one reported.

Then2022

Uncertain significance

As reported

Science
changed

Now2025

Likely benign

Single submitter

Patient summary

Record: VP-10708
Age band: 35-44
Sex: Female
Test date: 19 Aug 2022
Reporting laboratory: Cardiac Genetics Laboratory
Ordering department: Cardiology
Clinical owner: Dr. P. Varga
Last contact: 28 Sept 2023
Indication: Cascade testing following a family result

Synthetic record. No identifiers in this workspace correspond to a real person.

Historical finding

ClinVar

SCN5Ac.3287A>G (p.Gln1096Arg)

Panel: Inherited cardiac conditions panel
Condition: Cardiac arrhythmia / Brugada syndrome
ClinVar: VCV004758118
dbSNP: Not linked
As reported: Uncertain significance
Reported on: 27 Jun 2022

Identified during an arrhythmia work-up. Population frequency data was limited at the time of reporting.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Likely benign
Consensus status: Single submitter
Evidence confidence: Limited1 of 4 review criteria met
Last evaluated: 30 Sept 2025
Submissions: 1
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr3:38579434 (GRCh38)

Evidence summary

Decision support

Accumulated evidence now favours a more benign reading of SCN5A c.3287A>G than the uncertain significance interpretation issued in 2022; the current consensus is likely benign. Where the original result drove additional testing or surveillance, that basis may have weakened. 2 records on file carry this variant and have not yet been reassessed.

Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.

How VariantPulse reached this resultEight steps, each one inspectable

1Historical record retrievedSCN5A c.3287A>G reported as Uncertain significance on 2022-06-27.
2Variant normalisedResolved to ClinVar VCV004758118 and keyed as SCN5A:c.3287A>G.
3Current evidence retrievedRead live from ClinVar: Likely benign, 1 submission, criteria provided, single submitter.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Likely benign. Evidence moved toward a benign interpretation.
5Regional sources comparedRegional index asserts Likely benign, consistent with the global reading.
6Impacted records identified12,482 findings checked; 2 carry this variant.
7Evidence brief generatedComposed from the structured fields of the cited records above.
8Human review requestedVariantPulse does not change any record. A clinician decides what happens next.

Global and regional evidence

Sources agree

Global

Likely benign

Submissions: 1
Review status: Single submitter
Last evaluated: 30 Sept 2025
Reference frequency: Not reported

Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.

Regional

Likely benign

Observations: 11
Cohort size: 3,900
Last updated: 18 Mar 2026
Regional frequency: 2.80e-3

Modelled regional aggregation maintained inside this workspace.

VariantPulse analysis

Both sources place this variant in the same band, so there is no divergence to resolve. Regional frequency is consistent with the global reference set and supports the benign reading.

How the interpretation changed

SCN5A c.3287A>G — the DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying SCN5A c.3287A>G.
2022Reported as uncertain significanceIdentified during an arrhythmia work-up. Population frequency data was limited at the time of reporting.
2025Classification now likely benignLast evaluated 30 Sept 2025 · Single submitter.
TodayVariantPulse identified the affected records2 historical records carry this variant and were flagged for clinical review.

Decision support only. Final interpretation remains with the qualified clinical team.