ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) (rs797045365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194077 SCV000246695 likely pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000543168 SCV000639979 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2016-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1001 of the ATP7A protein (p.Pro1001Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as a somatic mosaic in an individual with Menkes disease (PMID: 20799318). ClinVar contains an entry for this variant (Variation ID: 210439). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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