ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)

dbSNP: rs72554649
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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 RCV000012551 SCV000246693 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851805 SCV002236679 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Menkes disease (PMID: 11241493). This variant is also known as 3083C>T. ClinVar contains an entry for this variant (Variation ID: 11784). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg980*) in the ATP7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413).
OMIM RCV000012551 SCV000032785 pathogenic Menkes kinky-hair syndrome 1998-12-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000012551 SCV004011773 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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