ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*255G>T

dbSNP: rs2039328082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001913763 SCV002186730 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-10-12 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 1428 of the SYNJ1 protein (p.Met1428Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.

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