ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.626C>T (p.Ala209Val)

gnomAD frequency: 0.00005  dbSNP: rs112960104
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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 RCV000824623 SCV000965528 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 209 of the BRAT1 protein (p.Ala209Val). This variant is present in population databases (rs112960104, 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: 666184). 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 RCV000991587 SCV001143176 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243349 SCV003937364 uncertain significance Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.626C>T (p.A209V) alteration is located in exon 5 (coding exon 4) of the BRAT1 gene. This alteration results from a C to T substitution at nucleotide position 626, causing the alanine (A) at amino acid position 209 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000991587 SCV005188407 uncertain significance not provided criteria provided, single submitter not provided

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