ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)

gnomAD frequency: 0.00074  dbSNP: rs147929290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655757 SCV000777688 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531537 SCV001746727 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SYNJ1: PP3, BS2
GeneDx RCV001531537 SCV001872766 uncertain significance not provided 2024-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31592138)

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