ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)

dbSNP: rs2516694144
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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 RCV003798684 SCV004583712 pathogenic Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg533*) in the SYNJ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNJ1 are known to be pathogenic (PMID: 25316601, 27435091). For these reasons, this variant has been classified as Pathogenic.

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