ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2931C>G (p.Tyr977Ter) (rs63750111)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074788 SCV000107999 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000491868 SCV000580278 pathogenic Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000491868 SCV000905455 pathogenic Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing
GeneDx RCV001008655 SCV001168434 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in patients with Lynch-related cancers and tumor studies consistent with pathogenic variants in this gene (Cederquist 2004, Cederquist 2005, Tzortzatos 2015, Gong 2019); Described as a founder variant in the Swedish population (Cederquist 2005, Therkildsen 2012)

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