Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002923510 | SCV003272151 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2022-10-13 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is present in population databases (rs143294126, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 467 of the SYNJ1 protein (p.Met467Val). |
| Ambry Genetics | RCV002923509 | SCV003618200 | uncertain significance | Inborn genetic diseases | 2022-05-31 | criteria provided, single submitter | clinical testing | The c.1399A>G (p.M467V) alteration is located in exon 11 (coding exon 11) of the SYNJ1 gene. This alteration results from a A to G substitution at nucleotide position 1399, causing the methionine (M) at amino acid position 467 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |