ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln)

dbSNP: rs61752550
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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 RCV000698606 SCV000827279 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2019-05-28 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 1235 of the SYNJ1 protein (p.Pro1235Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNJ1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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