ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) (rs72554645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193280 SCV000246680 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000578755 SCV000680685 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing The R795X variant in the ATP7A gene has been previously identified in at least one male with a clinical diagnosis of classical severe Menkes disease (Tümer et al., 1997a; Tümer et al., 1997b). In addition, R795X due to a different nucleotide substitution (c.2383 C>A) has been reported in a 41 year old affected female with skewed inactivation of the X chromosome and a history of intellectual disability, seizures, abnormal hair, slightly increased copper uptake (34 ng) and retention (30.7%), and a family history of classical Menkes disease in a brother who died at 27 months old (Møller et al., 2012). R795X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the ATP7A gene have been reported in Human Gene Mutation Database in association with Menkes disease (Stenson et al., 2014). Furthermore, the R795X variant is not observed in large population cohorts (Lek et al., 2016).

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