ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*733G>A

gnomAD frequency: 0.00003  dbSNP: rs758953009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217726 SCV001389577 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1588 of the SYNJ1 protein (p.Gly1588Ser). This variant is present in population databases (rs758953009, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 946789). 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 serine 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.
PreventionGenetics, part of Exact Sciences RCV003945925 SCV004766762 uncertain significance SYNJ1-related disorder 2024-01-23 criteria provided, single submitter clinical testing The SYNJ1 c.4762G>A variant is predicted to result in the amino acid substitution p.Gly1588Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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