ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.462dup (p.Lys155fs)

dbSNP: rs2077652014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238546 SCV001411364 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys155Glufs*7) 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). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413). This variant has not been reported in the literature in individuals with ATP7A-related conditions.

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