Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523294 | SCV000619965 | likely pathogenic | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29997391, 37344571) |
Invitae | RCV000650120 | SCV000771957 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-02-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 164 of the BRAT1 protein (p.Ala164Val). This variant is present in population databases (rs771600489, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of BRAT1-related conditions (PMID: 29997391). ClinVar contains an entry for this variant (Variation ID: 451290). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Genetic Services Laboratory, |
RCV001815000 | SCV002061986 | uncertain significance | not specified | 2017-12-13 | criteria provided, single submitter | clinical testing |