ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)

dbSNP: rs1575155995
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robert's Program, Boston Children's Hospital RCV000999467 SCV001146679 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2020-01-17 criteria provided, single submitter research This novel, de novo, frameshift, variant was identified in an individual with a clinical phenotype consistent with the IDDDFP condition. IDDDFP is caused by loss of function BRPF1 variants. We classify this variant as pathogenic using the following ACMG/AMP criteria: PVS1, PM2, and PS2.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526572 SCV001736998 pathogenic Global developmental delay criteria provided, single submitter clinical testing
Robert's Program, Boston Children's Hospital RCV001788390 SCV002030080 pathogenic Sudden unexplained death in childhood 2021-10-01 criteria provided, single submitter research We classify this variant as pathogenic using the following ACMG/AMP criteria: PVS1, PS2, PM2
CeGaT Center for Human Genetics Tuebingen RCV002068746 SCV002496775 pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing BRPF1: PVS1, PS2, PM2, PS4:Moderate
AiLife Diagnostics, AiLife Diagnostics RCV002068746 SCV002502894 pathogenic not provided 2021-06-03 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000999467 SCV002556383 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2021-10-20 criteria provided, single submitter clinical testing
GeneDx RCV002068746 SCV004028156 pathogenic not provided 2023-08-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32652122, 35027292, 33004838)

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