ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.908A>T (p.Asp303Val)

dbSNP: rs2104177736
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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 RCV002449989 SCV002683083 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing The p.D303V variant (also known as c.908A>T), located in coding exon 5 of the MSH2 gene, results from an A to T substitution at nucleotide position 908. The aspartic acid at codon 303 is replaced by valine, 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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