ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2909dup (p.Arg971fs)

dbSNP: rs1553638877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521078 SCV000621982 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The c.2909dupT variant in the SETD5 gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The c.2909dupT variant causes a frameshift starting with codon Arginine 971, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 39 of the new reading frame, denoted p.Arg971GlufsX39. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2909dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2909dupT as a pathogenic variant.

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