Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001345727 | SCV001539866 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 12 of the SYNJ1 protein (p.Asp12Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. While this variant is present in population databases (rs775805673), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV002547042 | SCV003736831 | uncertain significance | Inborn genetic diseases | 2021-10-21 | criteria provided, single submitter | clinical testing | The c.35A>G (p.D12G) alteration is located in exon 1 (coding exon 1) of the SYNJ1 gene. This alteration results from a A to G substitution at nucleotide position 35, causing the aspartic acid (D) at amino acid position 12 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |