ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)

gnomAD frequency: 0.00008  dbSNP: rs371360176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650105 SCV000771942 benign Neonatal-onset encephalopathy with rigidity and seizures 2023-11-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000650105 SCV001525446 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2020-10-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003303067 SCV004009188 likely benign Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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