ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)

dbSNP: rs1557233382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513480 SCV000609401 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing ATP7A: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001865685 SCV002315625 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 444817). This variant has not been reported in the literature in individuals affected with ATP7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 541 of the ATP7A protein (p.Met541Val). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP7A protein function. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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