Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001221984 | SCV001394062 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2021-02-25 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 1200 of the SYNJ1 protein (p.Pro1200Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. |
| Ambry Genetics | RCV002562545 | SCV003645269 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.3598C>G (p.P1200A) alteration is located in exon 28 (coding exon 28) of the SYNJ1 gene. This alteration results from a C to G substitution at nucleotide position 3598, causing the proline (P) at amino acid position 1200 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |