ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2668G>A (p.Val890Ile)

dbSNP: rs786202628
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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 RCV000820104 SCV000960798 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169006 SCV003865242 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-12 criteria provided, single submitter clinical testing The p.V890I variant (also known as c.2668G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 2668. The valine at codon 890 is replaced by isoleucine, 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.
Color Diagnostics, LLC DBA Color Health RCV003169006 SCV004357664 likely benign Hereditary cancer-predisposing syndrome 2016-01-07 criteria provided, single submitter clinical testing

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