ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln)

gnomAD frequency: 0.00013  dbSNP: rs144048853
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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 RCV000549180 SCV000660147 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1252 of the SYNJ1 protein (p.Arg1252Gln). This variant is present in population databases (rs144048853, gnomAD 0.03%). This missense change has been observed in individual(s) with autosomal recessive early-onset parkinsonism (PMID: 23804577). ClinVar contains an entry for this variant (Variation ID: 478347). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNJ1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics RCV000713728 SCV000844357 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713728 SCV002064066 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing

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