ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys)

dbSNP: rs1557239142
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519044 SCV000621606 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing The N1475K variant in the ATP7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The N1475K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N1475K as a variant of uncertain significance.

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