ClinVar Miner

Submissions for variant NC_000021.8:g.(?_34029319)_(34031816_?)del

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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 RCV002017975 SCV002304440 likely pathogenic Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-26 criteria provided, single submitter clinical testing This variant results in the deletion of exons 19 and part of exon 20 (c.2422-1634_2690del) of the SYNJ1 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 SYNJ1 are known to be pathogenic (PMID: 25316601, 27435091). This variant has not been reported in the literature in individuals affected with SYNJ1-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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