ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3778G>A (p.Val1260Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013817 SCV004825815 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004371974 SCV005032894 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-10 criteria provided, single submitter clinical testing The p.V1260I variant (also known as c.3778G>A), located in coding exon 8 of the MSH6 gene, results from a G to A substitution at nucleotide position 3778. The valine at codon 1260 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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