ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2900T>G (p.Ile967Arg)

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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 RCV002438078 SCV002750911 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-25 criteria provided, single submitter clinical testing The p.I967R variant (also known as c.2900T>G), located in coding exon 4 of the MSH6 gene, results from a T to G substitution at nucleotide position 2900. The isoleucine at codon 967 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV004007458 SCV004834452 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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