ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.871G>A (p.Gly291Ser)

gnomAD frequency: 0.00023  dbSNP: rs764583480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650097 SCV000771934 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 291 of the BRAT1 protein (p.Gly291Ser). This variant is present in population databases (rs764583480, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of BRAT1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 540156). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRAT1 protein function. 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.
GeneDx RCV001552644 SCV001773368 uncertain significance not provided 2019-04-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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