ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.860dup (p.Gln288fs) (rs193922375)

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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 RCV000162420 SCV000212761 pathogenic Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000030255 SCV000052922 likely pathogenic Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000030255 SCV000284191 pathogenic Lynch syndrome 2016-01-15 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 5 of the MSH2 mRNA (c.860dupG), causing a frameshift at codon 288. This creates a premature translational stop signal (p.Gln288Thrfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MSH2 are known to be pathogenic (PMID: 24362816, 15849733). For these reasons, this variant has been classified as Pathogenic.

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