ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.782_783insA (p.Met261fs) (rs786204144)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168130 SCV000218789 pathogenic Lynch syndrome 2014-11-01 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 4 of the MSH2 mRNA (c.782_783insA), causing a frameshift at codon 261. This creates a premature translational stop signal (p.Met261Ilefs*23) and is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH2 are known to be pathogenic (PMID: 15849733). For these reasons, this sequence change has been classified as Pathogenic.

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