ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1118G>T (p.Arg373Met)

dbSNP: rs864622254
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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 RCV001017387 SCV001178462 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-14 criteria provided, single submitter clinical testing The p.R373M variant (also known as c.1118G>T), located in coding exon 7 of the MSH2 gene, results from a G to T substitution at nucleotide position 1118. The arginine at codon 373 is replaced by methionine, an amino acid with similar 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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