ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)

gnomAD frequency: 0.00598  dbSNP: rs140451075
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224838 SCV000280713 likely benign not provided 2015-10-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082931 SCV000652281 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224838 SCV000780877 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing BRAT1: BP4, BS2
Athena Diagnostics RCV000224838 SCV000841053 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000224838 SCV001870022 benign not provided 2018-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500744 SCV002805994 likely benign Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2021-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519755 SCV003756162 likely benign Inborn genetic diseases 2021-10-21 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.
Breakthrough Genomics, Breakthrough Genomics RCV000224838 SCV005228338 likely benign not provided criteria provided, single submitter not provided

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