ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.691G>C (p.Val231Leu)

dbSNP: rs1572719960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886796 SCV002165868 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-05-25 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 leucine, which is neutral and non-polar, at codon 231 of the MSH6 protein (p.Val231Leu).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493885 SCV004243084 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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