ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.551del (p.Phe184fs)

dbSNP: rs267607928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076636 SCV000107671 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000481227 SCV000568616 pathogenic not provided 2021-03-08 criteria provided, single submitter clinical testing Frameshift 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 et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Ramsoekh 2008, Adan 2019); This variant is associated with the following publications: (PMID: 18625694, 30560308)

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