Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042319 | SCV001205995 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-03-19 | 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 840355). This missense change has been observed in individual(s) with progressive encephalopathy (PMID: 26947546). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 522 of the BRAT1 protein (p.Glu522Lys). |
Revvity Omics, |
RCV003490021 | SCV004234645 | uncertain significance | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing |