ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.634A>T (p.Lys212Ter)

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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 RCV002368963 SCV002659537 pathogenic Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing The p.K212* pathogenic mutation (also known as c.634A>T), located in coding exon 3 of the MSH2 gene, results from an A to T substitution at nucleotide position 634. This changes the amino acid from a lysine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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