ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1596-12_1596-11del

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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 RCV002580795 SCV002944435 uncertain significance Hereditary spastic paraplegia 48 2023-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the AP5Z1 gene. It does not directly change the encoded amino acid sequence of the AP5Z1 protein. This variant is present in population databases (rs779505778, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1905342). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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