ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.420_421insTT (p.Met141fs)

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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 RCV002327865 SCV002630658 pathogenic Hereditary cancer-predisposing syndrome 2019-01-03 criteria provided, single submitter clinical testing The c.420_421insTT pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from an insertion of two nucleotides at position 420, causing a translational frameshift with a predicted alternate stop codon (p.M141Lfs*34). 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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