ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3878C>G (p.Ala1293Gly)

gnomAD frequency: 0.00001  dbSNP: rs764835191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001924322 SCV002207011 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361252 SCV002623807 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-29 criteria provided, single submitter clinical testing The p.A1293G variant (also known as c.3878C>G), located in coding exon 9 of the MSH6 gene, results from a C to G substitution at nucleotide position 3878. The alanine at codon 1293 is replaced by glycine, 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.
Baylor Genetics RCV003464246 SCV004195746 uncertain significance Endometrial carcinoma 2023-06-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010906 SCV004834457 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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