ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys)

gnomAD frequency: 0.00005  dbSNP: rs143390199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818176 SCV000958775 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 20 of the BRAT1 protein (p.Arg20Lys). This variant is present in population databases (rs143390199, gnomAD 0.02%). 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: 660880). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRAT1 protein function with a negative predictive value of 95%. 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.
Baylor Genetics RCV000818176 SCV001525451 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2019-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002478910 SCV002786836 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2021-10-07 criteria provided, single submitter clinical testing
GeneDx RCV003322829 SCV004028145 uncertain significance not provided 2021-07-09 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; This variant is associated with the following publications: (PMID: 27535533)

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