ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1451C>G (p.Thr484Ser)

gnomAD frequency: 0.00010  dbSNP: rs200248064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694107 SCV000822536 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 484 of the BRAT1 protein (p.Thr484Ser). This variant is present in population databases (rs200248064, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 572668). 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.
Athena Diagnostics Inc RCV000710741 SCV000841039 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000710741 SCV002031118 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV002532253 SCV003534987 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1451C>G (p.T484S) alteration is located in exon 11 (coding exon 10) of the BRAT1 gene. This alteration results from a C to G substitution at nucleotide position 1451, causing the threonine (T) at amino acid position 484 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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