ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1008del (p.Gln337fs) (rs879253899)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235596 SCV000292729 pathogenic not provided 2015-11-03 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH2 is denoted c.1008delT at the cDNA level and p.Gln337LysfsX20 (Q337KfsX20) at the protein level. The normal sequence, with the base that is deleted in braces, is ACCCC[T]CAAG. The deletion causes a frameshift, which changes a Glutamine to a Lysine at codon 337, and creates a premature stop codon at position 20 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 RCV000459708 SCV000548268 pathogenic Lynch syndrome 2016-08-03 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 6 of the MSH2 mRNA (c.1008delT), causing a frameshift at codon 337. This creates a premature translational stop signal (p.Gln337Lysfs*20) 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: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235596 SCV000601422 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing

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