ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)

gnomAD frequency: 0.00002  dbSNP: rs1427317043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809589 SCV000949747 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV003314649 SCV004014593 uncertain significance not provided 2023-07-11 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 has a deleterious effect on protein structure/function
Natera, Inc. RCV001835973 SCV002089081 uncertain significance Menkes kinky-hair syndrome 2021-05-16 no assertion criteria provided clinical testing

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