ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) (rs1057517384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409526 SCV000487200 likely pathogenic Wilson disease 2016-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000489522 SCV000577513 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing The c.388_389dupGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.388_389dupGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.388_389dupGC variant causes a frameshift starting with codon Alanine 131, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ala131GlnfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.388_389dupGC as a pathogenic variant.

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