ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*253A>G

gnomAD frequency: 0.00001  dbSNP: rs1398328287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791575 SCV000930832 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1428 of the SYNJ1 protein (p.Met1428Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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