ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln)

gnomAD frequency: 0.00004  dbSNP: rs768435291
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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 RCV001327132 SCV001518194 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs768435291, gnomAD 0.007%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNJ1 protein function. ClinVar contains an entry for this variant (Variation ID: 1026655). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 159 of the SYNJ1 protein (p.Arg159Gln).
GeneDx RCV001773654 SCV001994541 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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