ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3592G>C (p.Ala1198Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002339837 SCV002619325 likely pathogenic Hereditary cancer-predisposing syndrome 2024-03-27 criteria provided, single submitter clinical testing The p.A1198P variant (also known as c.3592G>C), located in coding exon 7 of the MSH6 gene, results from a G to C substitution at nucleotide position 3592. The alanine at codon 1198 is replaced by proline, an amino acid with highly similar properties. This variant has been identified in a proband whose Lynch syndrome-associated tumor demonstrated high microsatellite instability and isolated loss of MSH6 expression by immunohistochemistry (Ambry internal data). Based on internal structural analysis, this residue is on the interface with MSH2 and p.A1198P is very destabilizing to the local structure (Ambry internal data). This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005025796 SCV005658592 likely pathogenic Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 2024-05-02 criteria provided, single submitter clinical testing

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