ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003067998 SCV003451628 benign not provided 2024-11-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155509 SCV003844210 uncertain significance not specified 2023-02-24 criteria provided, single submitter clinical testing Variant summary: BRWD3 c.4384A>G (p.Ser1462Gly) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.7e-05 in 183156 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4384A>G in individuals affected with Intellectual Disability, X-Linked 93 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Illumina Laboratory Services, Illumina RCV003985112 SCV004801451 uncertain significance Intellectual disability, X-linked 93 2020-04-14 criteria provided, single submitter clinical testing The BRWD3 c.4384A>G p.(Ser1462Gly) missense variant is a missense variant. To our knowledge, this variant has not been reported in the peer-reviewed literature. The highest frequency of this allele in the Genome Aggregation Database is 0.000037 in the European (non-Finnish) population (version 2.1.1). Based on the limited evidence, the c.4384A>G p.(Ser1462Gly) variant is classified as a variant of uncertain significance for intellectual development disorder.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.