ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.388C>T (p.Gln130Ter) (rs1060501989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471483 SCV000548129 pathogenic Lynch syndrome 2016-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 130 (p.Gln130*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This variant has been reported in individuals affected with MSH2-related disease in the Universal Mutation Database (PMID: 23729658). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657785 SCV000779538 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.388C>T at the cDNA level and p.Gln130Ter (Q130X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>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.
Color RCV001190389 SCV001357853 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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