ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)

gnomAD frequency: 0.00002  dbSNP: rs1385333276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043827 SCV001207594 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348365 SCV002622534 uncertain significance Inborn genetic diseases 2020-04-27 criteria provided, single submitter clinical testing The p.M1246V variant (also known as c.3736A>G), located in coding exon 18 of the ATP7A gene, results from an A to G substitution at nucleotide position 3736. The methionine at codon 1246 is replaced by valine, 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.
Natera, Inc. RCV001043827 SCV001457714 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-09-16 no assertion criteria provided clinical testing

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