ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443551 SCV002736479 uncertain significance Inborn genetic diseases 2020-02-26 criteria provided, single submitter clinical testing The p.V751M variant (also known as c.2251G>A), located in coding exon 9 of the ATP7A gene, results from a G to A substitution at nucleotide position 2251. The valine at codon 751 is replaced by methionine, an amino acid with highly similar 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 alteration remains unclear.
Invitae RCV003101168 SCV003449932 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-10-28 criteria provided, single submitter clinical testing
GeneDx RCV003318724 SCV004022818 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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