ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)

gnomAD frequency: 0.00005  dbSNP: rs115989459
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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 RCV000655776 SCV000777707 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-12-13 criteria provided, single submitter clinical testing
GeneDx RCV002508244 SCV002817784 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported along with a second variant in the SYNJ1 gene in a patient with Parkinson disease in the published literature; however, segregation information was not provided (Li et al., 2020); This variant is associated with the following publications: (PMID: 32171587, 34426522, 26149920, 30788857)
Breakthrough Genomics, Breakthrough Genomics RCV002508244 SCV005206205 likely benign not provided criteria provided, single submitter not provided

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