ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)

dbSNP: rs2517367397
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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 RCV003012137 SCV003307935 pathogenic Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1259Aspfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2095036). For these reasons, this variant has been classified as Pathogenic.

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