ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.469_470dup (p.Glu158fs) (rs1553411392)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480263 SCV000566841 pathogenic not provided 2015-06-09 criteria provided, single submitter clinical testing This duplication of 2 nucleotides in MSH6 is denoted c.469_470dupAA at the cDNA level and p.Glu158ArgfsX17 (E158RfsX17) at the protein level. The normal sequence, with the bases that are duplicated in braces, is ATCA[AA]GGAAG. The duplication causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 158, and creates a premature stop codon at position 17 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.

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