VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseAccumulated evidence now favours a more benign interpretation than the one reported.
Uncertain significance
As reported
Likely benign
Single submitter
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.
Each source is shown as it reports itself. VariantPulse does not merge them into a single verdict.
| Source | Classification | Review level | Last updated | Strength | |
|---|---|---|---|---|---|
| ClinVar1 submission on record. | Likely benign | Single submitter | 30 Sept 2025 | Limited1 of 4 review criteria met | VCV004758118 |
| Population frequencyHighest reported allele frequency carried on the source record. | Not reported | No frequency data | 30 Sept 2025 | Reference observation | |
| LiteraturePublications linked to this variant record. | 1 indexed publication | PubMed index | Latest 2015 | Supporting context | |
| Regional Evidence IndexModelled regional aggregation maintained inside this workspace | Likely benign | 11 regional observations | 18 Mar 2026 | Cohort 3,900 | |
| This institutionThe interpretation issued to the patient at the time of testing. | Uncertain significance | Internal report | 27 Jun 2022 | On record |
Cited publications
Global
Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.
Regional
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.
SCN5A c.3287A>G — the DNA is unchanged. The evidence around it is not.
A triage signal for the queue. Not a clinical risk score, and not a statement about any individual.
Historical findings in the connected record system that reference this variant.