ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1702G>A (p.Ala568Thr)

gnomAD frequency: 0.00004  dbSNP: rs141709461
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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 RCV000695350 SCV000823845 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 568 of the BRAT1 protein (p.Ala568Thr). This variant is present in population databases (rs141709461, gnomAD 0.005%). 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: 573632). 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 RCV001288812 SCV001476178 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965682 SCV005548506 uncertain significance Inborn genetic diseases 2024-06-25 criteria provided, single submitter clinical testing The c.1702G>A (p.A568T) alteration is located in exon 13 (coding exon 12) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 1702, causing the alanine (A) at amino acid position 568 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Clinical Pathology, School of Medicine, Fujita Health University RCV004559617 SCV004218235 likely benign EBV-positive nodal T- and NK-cell lymphoma no assertion criteria provided research

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