ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) (rs1557238569)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522102 SCV000622074 likely pathogenic not provided 2017-11-07 criteria provided, single submitter clinical testing A c.3812delC variant that is likely pathogenic has been identified in the ATP7A gene. The c.3812delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant causes a frameshift starting with codon Threonine 1271, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Thr1271IlefsX16. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.3812delC variant is not observed in large population cohorts (Lek et al., 2016). Furthermore, although this variant has not been reported previously to our knowledge, other frameshift variants downstream of this position in the ATP7A protein have been reported in the Human Gene Mutation Database in association with ATP7A-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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