ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)

gnomAD frequency: 0.00005  dbSNP: rs782682493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722409 SCV000573054 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33151932)
Invitae RCV000640892 SCV000762496 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329161 SCV002627642 uncertain significance Inborn genetic diseases 2020-01-03 criteria provided, single submitter clinical testing The p.V1438I variant (also known as c.4312G>A), located in coding exon 22 of the ATP7A gene, results from a G to A substitution at nucleotide position 4312. The valine at codon 1438 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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