ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.70C>T (p.Gln24Ter) (rs587779976)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115541 SCV000149450 pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.70C>T at the cDNA level and p.Gln24Ter (Q24X) 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. This variant has been reported in at least one individual with a personal history of endometrial and peritoneal cancer (Susswein 2016), and is considered pathogenic.
Color RCV000772129 SCV000905217 pathogenic Hereditary cancer-predisposing syndrome 2017-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772129 SCV001188342 pathogenic Hereditary cancer-predisposing syndrome 2019-06-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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