ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003050627 SCV003445358 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-02-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Menkes disease (PMID: 18256395). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1385*) 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).
Inherited Neuropathy Consortium Ii, University Of Miami RCV003312071 SCV004011865 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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