ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) (rs1557236747)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536444 SCV000639981 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2016-12-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with glutamate at codon 1013 of the ATP7A protein (p.Met1013Glu). The methionine residue is highly conserved and methionine to glutamate change is a nonpolar to acidic amino acid change. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATP7A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Not Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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