ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.399del (p.Trp133fs) (rs1345848733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008248 SCV001168014 likely pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The c.399delG variant in the ATP7B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a nonsense variant at this same codon (W133X) has been reported in an individual with Wilson disease, however additional information on if a second ATP7B variant was seen in this individual was not provided (Cheng et al., 2017). The c.399delG variant causes a frameshift starting with codon Tryptophan 133, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Trp133CysfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.399delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.399delG as a likely pathogenic variant.

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