Patient record

VP-10788

45-54 · Female · Lynch syndrome screening

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-10788
Age band: 45-54
Sex: Female
Test date: 17 Jan 2023
Reporting laboratory: Partner Reference Laboratory
Ordering department: Gastroenterology
Clinical owner: Dr. M. Suleiman
Last contact: 9 Feb 2023
Indication: Lynch syndrome screening

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

Historical finding

ClinVar

MLH1c.1612T>G (p.Trp538Gly)

Panel: Hereditary cancer panel
Condition: Lynch syndrome
ClinVar: VCV000633500
dbSNP: rs1559575214
As reported: Uncertain significance
Reported on: 17 Jan 2023

Missense change reviewed against mismatch repair criteria. Insufficient evidence to reclassify.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Uncertain significance
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 19 Dec 2018
Submissions: 1
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr3:37040239 (GRCh38)

Evidence summary

Decision support

Current evidence for MLH1 c.1612T>G agrees with the uncertain significance interpretation issued in 2023. The classification was last evaluated on 19 Dec 2018 and carries a single submission.

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 retrievedMLH1 c.1612T>G reported as Uncertain significance on 2023-01-17.
2Variant normalisedResolved to ClinVar VCV000633500 (rs1559575214) and keyed as MLH1:c.1612T>G.
3Current evidence retrievedRead live from ClinVar: Uncertain significance, 1 submission, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Uncertain significance. Codes are identical, so no reclassification has occurred.
5Regional sources comparedNo regional evidence is held for this variant.
6Impacted records identified12,482 findings checked; 3 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.

How the interpretation changed

MLH1 c.1612T>G — the DNA is unchanged. The evidence around it is not.

2023Genetic test performedFirst record on file carrying MLH1 c.1612T>G.
2023Reported as uncertain significanceMissense change reviewed against mismatch repair criteria. Insufficient evidence to reclassify.
TodayVariantPulse identified the affected records3 historical records carry this variant and were flagged for clinical review.

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