ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1564G>A (p.Glu522Lys)

dbSNP: rs145509776
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Total submissions: 2
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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, Revvity RCV003490021 SCV004234645 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing

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