ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1771_1772insA (p.Pro591fs) (rs267607977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076280 SCV000107301 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000524359 SCV000548142 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-01-16 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 12 of the MSH2 mRNA (c.1771_1772insA), causing a frameshift at codon 591. This creates a premature translational stop signal (p.Pro591Hisfs*7) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Lynch syndrome (PMID: 12362047). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001013055 SCV001173592 pathogenic Hereditary cancer-predisposing syndrome 2018-09-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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