ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln)

gnomAD frequency: 0.00001  dbSNP: rs1404522896
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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 RCV001366805 SCV001563122 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 773 of the SYNJ1 protein (p.Arg773Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. 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. 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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