ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1838dup (p.Asn613fs) (rs1114167815)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491996 SCV000580453 pathogenic Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000781568 SCV000919720 likely pathogenic Lynch syndrome 2018-11-14 criteria provided, single submitter clinical testing Variant summary: MSH2 c.1838dupA (p.Asn613LysfsX31) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Arg621X, p.Arg680X, p.Gln681X). The variant was absent in 246258 control chromosomes (gnomAD). The variant, c.1838dupA, has been reported in the literature in a family affected with Lynch Syndrome (Geary 2008). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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