ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr)

dbSNP: rs2078042001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324630 SCV001515590 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 1264 of the ATP7A protein (p.Ile1264Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant has not been reported in the literature in individuals with ATP7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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