ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2371del (p.Arg791fs) (rs886041913)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000377574 SCV000330713 pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH6 is denoted c.2371delC at the cDNA level and p.Arg791ValfsX2 (R791VfsX2) at the protein level. The normal sequence, with the base that is deleted in braces, is TGAT{C}GTCT. The deletion causes a frameshift which changes an Arginine to a Valine at codon 791, and creates a premature stop codon at position 2 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. The International Society for Gastrointestinal Hereditary Tumors Incorporated (InSiGHT) classifies this variant as pathogenic (Thompson 2014). Therefore, based on the ACMG recommendations, c.2371delC is interpreted as an expected pathogenic sequence change.

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