ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2009G>A (p.Arg670His)

gnomAD frequency: 0.00011  dbSNP: rs147119058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062080 SCV001226853 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 670 of the BRAT1 protein (p.Arg670His). This variant is present in population databases (rs147119058, gnomAD 0.03%). 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: 856586). 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 with a negative predictive value of 80%. 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 RCV001561859 SCV001784535 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing 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
CeGaT Center for Human Genetics Tuebingen RCV001561859 SCV002062728 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553913 SCV003683395 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.2009G>A (p.R670H) alteration is located in exon 14 (coding exon 13) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 2009, causing the arginine (R) at amino acid position 670 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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