ClinVar Miner

Submissions for variant NC_000007.13:g.(?_92146662)_(92148110_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV004583471 SCV005064577 likely pathogenic Zellweger spectrum disorders 2019-12-21 criteria provided, single submitter clinical testing 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. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). This variant has not been reported in the literature in individuals with PEX1-related conditions. This variant is a deletion of the genomic region encompassing exon 4 and part of exon 5 (c.357+199_1167del) of the PEX1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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