Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000554414 | SCV000660153 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1401 of the SYNJ1 protein (p.Thr1401Met). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 478353). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. |
| Ambry Genetics | RCV004024436 | SCV004961684 | uncertain significance | Inborn genetic diseases | 2021-08-09 | criteria provided, single submitter | clinical testing | The c.4202C>T (p.T1401M) alteration is located in exon 32 (coding exon 32) of the SYNJ1 gene. This alteration results from a C to T substitution at nucleotide position 4202, causing the threonine (T) at amino acid position 1401 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |