ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) (rs587780538)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491356 SCV000580300 pathogenic Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000519222 SCV000617159 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.1367G>A at the cDNA level and p.Trp456Ter (W456X) 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. This variant has been reported in two individuals with endometrial cancer and in an individual with a personal history of breast cancer and a family history of multiple cancers, including breast, colon, and endometrial (Egoavil 2013, Desmond 2015). We consider this variant to be pathogenic.
Invitae RCV000119152 SCV000153872 pathogenic Lynch syndrome 2014-03-27 no assertion criteria provided clinical testing This sequence change has been reported in two patients affected with Lynch syndrome (PMID: 24244552) and has not been reported as a common polymorphism in the population. This sequence change results in a premature translational stop signal at codon 456, and is expected to result in an absent or disrupted protein product.

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