ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)

gnomAD frequency: 0.00002  dbSNP: rs781959472
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000615428 SCV000731252 uncertain significance Menkes kinky-hair syndrome 2017-11-28 criteria provided, single submitter research
GeneDx RCV001755993 SCV001995273 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000615428 SCV002515814 uncertain significance Menkes kinky-hair syndrome 2021-03-12 criteria provided, single submitter research ACMG codes: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003767739 SCV004569225 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-11-03 criteria provided, single submitter clinical testing

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