ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys)

gnomAD frequency: 0.00002  dbSNP: rs370189840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786871 SCV002028837 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001868886 SCV002234537 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 154 of the SYNJ1 protein (p.Arg154Cys). This variant is present in population databases (rs370189840, gnomAD 0.005%). 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: 1326691). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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