ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1806-6_1818del

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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 RCV005121459 SCV005746280 likely pathogenic Hereditary spastic paraplegia 48 2024-04-22 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.1806-6_1818del) of the AP5Z1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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