Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795490 | SCV000934954 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2022-03-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 636 of the SYNJ1 protein (p.Ala636Thr). This variant is not present in population databases (gnomAD no frequency). 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 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 642097). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. |
Ambry Genetics | RCV003307435 | SCV003993935 | uncertain significance | Inborn genetic diseases | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.1906G>A (p.A636T) alteration is located in exon 15 (coding exon 15) of the SYNJ1 gene. This alteration results from a G to A substitution at nucleotide position 1906, causing the alanine (A) at amino acid position 636 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |