ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.182del (p.Gln61fs) (rs1553348882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544034 SCV000625321 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-04-04 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 1 of the MSH2 mRNA (c.182delA), causing a frameshift at codon 61. This creates a premature translational stop signal (p.Gln61Argfs*3) 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.
Color RCV000777207 SCV000912898 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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