ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp)

gnomAD frequency: 0.00051  dbSNP: rs142964720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535707 SCV000660143 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1183 of the SYNJ1 protein (p.Gly1183Asp). This variant is present in population databases (rs142964720, gnomAD 0.1%). 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: 478343). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001770500 SCV002004051 uncertain significance not provided 2024-10-05 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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