ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3175G>A (p.Val1059Ile)

dbSNP: rs1249506770
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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 RCV000534610 SCV000624827 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-07-08 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 455239). 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 1059 of the MSH6 protein (p.Val1059Ile).
All of Us Research Program, National Institutes of Health RCV004003686 SCV004828530 uncertain significance Lynch syndrome 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004943944 SCV005451164 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-23 criteria provided, single submitter clinical testing The p.V1059I variant (also known as c.3175G>A), located in coding exon 5 of the MSH6 gene, results from a G to A substitution at nucleotide position 3175. The valine at codon 1059 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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