ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1499_1500del (p.Leu500fs)

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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 RCV005192382 SCV005829996 pathogenic Hereditary spastic paraplegia 48 2024-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu500Glnfs*31) 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 present in population databases (rs754345952, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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