ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg)

dbSNP: rs1555896707
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538615 SCV000660132 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2017-06-06 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on SYNJ1 function. The available evidence is currently insufficient to determine its role 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 a SYNJ1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 684 of the SYNJ1 protein (p.Gln684Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine .

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