ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.629T>C (p.Met210Thr)

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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 RCV002353951 SCV002655970 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The p.M210T variant (also known as c.629T>C), located in coding exon 3 of the MSH2 gene, results from a T to C substitution at nucleotide position 629. The methionine at codon 210 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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