ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3536C>T (p.Ala1179Val)

dbSNP: rs773583312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491948 SCV000580310 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-20 criteria provided, single submitter clinical testing The p.A1179V variant (also known as c.3536C>T), located in coding exon 6 of the MSH6 gene, results from a C to T substitution at nucleotide position 3536. The alanine at codon 1179 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003462 SCV004836375 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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