ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3383C>G (p.Pro1128Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002899098 SCV003241659 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1167 of the SYNJ1 protein (p.Pro1167Arg). This variant is present in population databases (no rsID available, 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: 2036372). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions.

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