ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)

dbSNP: rs754289472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020953 SCV001182502 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-27 criteria provided, single submitter clinical testing The p.E1237D variant (also known as c.3711G>C), located in coding exon 8 of the MSH6 gene, results from a G to C substitution at nucleotide position 3711. The glutamic acid at codon 1237 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001373676 SCV001570403 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995614 SCV004826743 uncertain significance Lynch syndrome 2023-04-27 criteria provided, single submitter clinical testing

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