ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.41+812_970del

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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 RCV000703139 SCV000832024 likely pathogenic Hereditary spastic paraplegia 48 2018-06-13 criteria provided, single submitter clinical testing This variant, c.41+812_970delinsTTAGCCGGGCATGGTG, is a complex rearrangement involving a gross deletion of the genomic region encompassing exons 2-8 and part of exon 9 of the AP5Z1 gene and an insertion of 16 nucleotides. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with AP5Z1-related disease. Loss-of-function variants in AP5Z1 are known to be pathogenic (PMID: 20613862, 27606357). 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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