ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.350G>A (p.Trp117Ter) (rs786202083)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473438 SCV000548221 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 117 (p.Trp117*) of the MSH2 gene. It 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.
GeneDx RCV000494274 SCV000582479 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.350 at the cDNA level and p.Trp117Ter (W117X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000494274 SCV000601474 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing

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