ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1470_1473delinsAAA (p.Met492fs) (rs1060502029)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470495 SCV000548298 pathogenic Lynch syndrome 2016-11-25 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides and inserts 3 nucleotides in exon 9 of the MSH2 mRNA (c.1470_1473delGAAGinsAAA), causing a frameshift at codon 492. This creates a premature translational stop signal (p.Met492Cysfs*5) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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