ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)

dbSNP: rs2077656822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222765 SCV001394881 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 266 of the ATP7A protein (p.Ser266Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATP7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004726996 SCV005340952 uncertain significance ATP7A-related disorder 2024-05-06 no assertion criteria provided clinical testing The ATP7A c.796T>A variant is predicted to result in the amino acid substitution p.Ser266Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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