ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)

gnomAD frequency: 0.00001  dbSNP: rs368091927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217137 SCV001388970 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001569797 SCV001793950 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#946297; Landrum et al., 2016)
Natera, Inc. RCV001833889 SCV002089109 uncertain significance Menkes kinky-hair syndrome 2021-03-10 no assertion criteria provided clinical testing

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