ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*613A>C

dbSNP: rs769954720
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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 RCV001229156 SCV001401593 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1548 of the SYNJ1 protein (p.Ser1548Arg). This variant is present in population databases (rs769954720, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 956367). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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