ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1762T>G (p.Tyr588Asp)

dbSNP: rs2104334937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401686 SCV002710589 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-10 criteria provided, single submitter clinical testing The p.Y588D variant (also known as c.1762T>G), located in coding exon 12 of the MSH2 gene, results from a T to G substitution at nucleotide position 1762. The tyrosine at codon 588 is replaced by aspartic acid, an amino acid with highly dissimilar 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.

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