ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3267dup (p.Glu1090fs) (rs1553331434)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414406 SCV000490621 pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.3267dupA at the cDNA level and p.Glu1090ArgfsX3 (E1090RfsX3) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TCTT[dupA]GAGC. The duplication causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 1090, 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. In addition, MSH6 c.3263dupT, which also results in p.Glu1090ArgfsX3, has been observed in at least one individual with colon cancer (You 2010). Based on currently available evidence, we consider MSH6 c.3267dupA to be pathogenic.

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