ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*761C>T

gnomAD frequency: 0.00143  dbSNP: rs111516740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558151 SCV000660162 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754478 SCV005367289 uncertain significance SYNJ1-related disorder 2024-09-09 no assertion criteria provided clinical testing The SYNJ1 c.4790C>T variant is predicted to result in the amino acid substitution p.Thr1597Met. This variant has been reported in the heterozygous state in a cohort of patient with early onset Parkinson's disease (Supplementary Table 12, Chen et al. 2022. PubMed ID: 35861376). This variant is reported in 0.45% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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