ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)

dbSNP: rs1399879043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790390 SCV000925628 uncertain significance Menkes kinky-hair syndrome 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV003768463 SCV004571927 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-06-24 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: 635314). This missense change has been observed in individual(s) with ATP7A-related conditions (PMID: 31319225). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 622 of the ATP7A protein (p.Ile622Val).

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