ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys)

gnomAD frequency: 0.00001  dbSNP: rs561276644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349137 SCV001543465 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-06-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1198 of the SYNJ1 protein (p.Glu1198Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs561276644, ExAC 0.02%). 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 tolerated, 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.

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