ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3827C>G (p.Pro1276Arg)

dbSNP: rs375902516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010294 SCV002278970 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 1315 of the SYNJ1 protein (p.Pro1315Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine.

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