ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)

gnomAD frequency: 0.00006  dbSNP: rs202234473
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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 RCV001441239 SCV001644163 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900513 SCV004709858 likely benign SYNJ1-related disorder 2023-12-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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