ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)

gnomAD frequency: 0.00001  dbSNP: rs1557236698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658090 SCV000779861 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002534270 SCV003472737 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835901 SCV002089083 uncertain significance Menkes kinky-hair syndrome 2019-10-28 no assertion criteria provided clinical testing

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