ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter)

dbSNP: rs2534048198
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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 RCV002812154 SCV003208228 pathogenic Hereditary spastic paraplegia 48 2022-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. This sequence change creates a premature translational stop signal (p.Cys301*) in the AP5Z1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AP5Z1 are known to be pathogenic (PMID: 20613862, 27606357). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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