ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*278T>G

gnomAD frequency: 0.00002  dbSNP: rs61750218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938799 SCV002203740 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1436 of the SYNJ1 protein (p.Ile1436Ser). This variant is present in population databases (rs61750218, 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: 1429172). 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: "Benign"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV002074441 SCV002496699 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing SYNJ1: PM2, BP4
Ambry Genetics RCV004041888 SCV004961686 uncertain significance Inborn genetic diseases 2021-03-17 criteria provided, single submitter clinical testing The c.4307T>G (p.I1436S) alteration is located in exon 32 (coding exon 32) of the SYNJ1 gene. This alteration results from a T to G substitution at nucleotide position 4307, causing the isoleucine (I) at amino acid position 1436 to be replaced by a serine (S). The p.I1436S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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