ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)

gnomAD frequency: 0.00001  dbSNP: rs781874593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786873 SCV002028843 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 33151932)
Labcorp Genetics (formerly Invitae), Labcorp RCV002544302 SCV003478738 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-01-23 criteria provided, single submitter clinical testing

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