ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.178T>G (p.Leu60Val)

dbSNP: rs35819209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774981 SCV000909074 likely benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774981 SCV002716205 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-18 criteria provided, single submitter clinical testing The p.L60V variant (also known as c.178T>G), located in coding exon 1 of the MSH6 gene, results from a T to G substitution at nucleotide position 178. The leucine at codon 60 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV004001424 SCV004830426 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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