ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.439C>T (p.Arg147Cys)

gnomAD frequency: 0.00001  dbSNP: rs1462349719
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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 RCV002014380 SCV002299999 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-01-03 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 186 of the SYNJ1 protein (p.Arg186Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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