ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2243A>T (p.Asp748Val)

dbSNP: rs1558521518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708842 SCV000837851 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424730 SCV002731007 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-14 criteria provided, single submitter clinical testing The p.D748V variant (also known as c.2243A>T), located in coding exon 14 of the MSH2 gene, results from an A to T substitution at nucleotide position 2243. The aspartic acid at codon 748 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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