ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met)

gnomAD frequency: 0.00001  dbSNP: rs1477089702
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366829 SCV001563146 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 286 of the SYNJ1 protein (p.Ile286Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SYNJ1-related conditions.

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