ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)

gnomAD frequency: 0.00001  dbSNP: rs1193696385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807468 SCV000947521 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-06-16 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with ATP7A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 496 of the ATP7A protein (p.Gly496Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279544 SCV002566167 uncertain significance Ehlers-Danlos syndrome 2020-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830762 SCV002089052 uncertain significance Menkes kinky-hair syndrome 2021-03-04 no assertion criteria provided clinical testing

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