ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2968T>G (p.Leu990Val)

dbSNP: rs1178799836
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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 RCV001017699 SCV001178821 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing The p.L990V variant (also known as c.2968T>G), located in coding exon 4 of the MSH6 gene, results from a T to G substitution at nucleotide position 2968. The leucine at codon 990 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, the CoDP in silico tool predicts this alteration to have minor impact on molecular function, with a score of 0.005 (Terui H et al. J. Biomed. Sci. 2013 Apr;20:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003467641 SCV004197695 uncertain significance Endometrial carcinoma 2023-09-26 criteria provided, single submitter clinical testing

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