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

dbSNP: rs1569549378

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	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	This variant is not present in population databases (gnomAD no frequency). 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 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).
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