ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2284G>A (p.Val762Ile)

dbSNP: rs1669443766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203930 SCV001375113 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-08-24 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 affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 762 of the MSH6 protein (p.Val762Ile). ClinVar contains an entry for this variant (Variation ID: 935359).
GeneDx RCV002307698 SCV002601032 uncertain significance not provided 2022-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17531815, 21120944)
All of Us Research Program, National Institutes of Health RCV004010633 SCV004831358 uncertain significance Lynch syndrome 2023-04-27 criteria provided, single submitter clinical testing

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