ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)

gnomAD frequency: 0.00001  dbSNP: rs782799150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314494 SCV000848174 uncertain significance Inborn genetic diseases 2017-02-24 criteria provided, single submitter clinical testing The p.D1483A variant (also known as c.4448A>C), located in coding exon 22 of the ATP7A gene, results from an A to C substitution at nucleotide position 4448. The aspartic acid at codon 1483 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV003768130 SCV004584338 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-07-29 criteria provided, single submitter clinical testing

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