ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)

dbSNP: rs1569549378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698996 SCV000827688 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-11-21 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 576488). 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 glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 31 of the ATP7A protein (p.Gly31Glu).
GeneDx RCV001796191 SCV005373386 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001796191 SCV002034917 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796191 SCV002037853 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830539 SCV002089026 uncertain significance Menkes kinky-hair syndrome 2020-03-04 no assertion criteria provided clinical testing

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