Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002047275 | SCV002108343 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with histidine at codon 332 of the SYNJ1 protein (p.Tyr332His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs763234456, ExAC 0.006%). 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 (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. |
| Ambry Genetics | RCV004038921 | SCV004961692 | uncertain significance | Inborn genetic diseases | 2023-12-11 | criteria provided, single submitter | clinical testing | The c.994T>C (p.Y332H) alteration is located in exon 8 (coding exon 8) of the SYNJ1 gene. This alteration results from a T to C substitution at nucleotide position 994, causing the tyrosine (Y) at amino acid position 332 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |