ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) (rs151340633)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000012560 SCV000246739 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725792 SCV000339441 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing
Invitae RCV001231166 SCV001403675 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg201*) in the ATP7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Menkes disease (PMID: 19194885, 28451781). ClinVar contains an entry for this variant (Variation ID: 11793). Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012560 SCV000032794 pathogenic Menkes kinky-hair syndrome 2009-01-01 no assertion criteria provided literature only

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