ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)

gnomAD frequency: 0.00026  dbSNP: rs369118921
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366434 SCV000482827 benign Intellectual disability, X-linked 93 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000502732 SCV000593780 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726151 SCV001962647 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing BRWD3: BP4, BP7, BS2
Ambry Genetics RCV002429334 SCV002730140 likely benign Inborn genetic diseases 2020-02-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001726151 SCV003482653 benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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