ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) (rs776470487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517704 SCV000615200 likely pathogenic not provided 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000517704 SCV000620803 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing The c.5591_5592delAA pathogenic variant in the SETX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5591_5592delAA variant causes a frameshift starting with codon Glutamine 1864, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 34 of the new reading frame, denoted p.Gln1864ArgfsX34. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5591_5592delAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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