ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2045_2047delinsTT (p.Thr682fs) (rs1553369034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657313 SCV000779044 pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted MSH2 c.2045_2047delCTGinsTT at the cDNA level and p.Thr682IlefsX3 (T682IfsX3) at the protein level. The surrounding sequence is CAAA[delCTG][insTT]GGGT. The variant causes a frameshift which changes a Threonine to an Isoleucine at codon 682, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV001241454 SCV001414471 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr682Ilefs*3) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related conditions. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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