ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys)

gnomAD frequency: 0.00001  dbSNP: rs1283151166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703018 SCV000831897 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2018-11-21 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SYNJ1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 832 of the SYNJ1 protein (p.Tyr832Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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