Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002522729 | SCV003443974 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2022-04-21 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 888 of the SYNJ1 protein (p.Tyr888Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SYNJ1-related conditions (PMID: 27435091). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 393357). 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. Experimental studies have shown that this missense change affects SYNJ1 function (PMID: 27435091). 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. |
OMIM | RCV000445434 | SCV000536943 | pathogenic | Developmental and epileptic encephalopathy, 53 | 2020-11-11 | no assertion criteria provided | literature only |