ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)

dbSNP: rs1553412354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708860 SCV000837874 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861934 SCV002112128 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-04-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MSH6 protein function. This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 584615). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 308 of the MSH6 protein (p.Gly308Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine.
Ambry Genetics RCV004944132 SCV005451118 likely benign Hereditary cancer-predisposing syndrome 2024-11-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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