ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)

gnomAD frequency: 0.00001  dbSNP: rs374855698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878801 SCV002134873 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV002285509 SCV002575775 uncertain significance not provided 2022-03-23 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 has a deleterious effect on protein structure/function

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