ClinVar Miner

Submissions for variant NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)

dbSNP: rs2146693248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University RCV001375490 SCV001439387 uncertain significance Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis 2020-10-19 no assertion criteria provided research Whole exome and Sanger sequencing identified a homozygous missense variant (NM_018963.5:1016T>C, p.(Leu339Ser) in the BRWD1 gene in a consanguineous family. The variant was absent in the 1000 Genomes Project (1000G), the NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP). The two variants were predicted to be deleterious by Mutation taster, SIFT, PolyPhen-2, and CADD (PHRED-scaled score = 28.5). According to the American College of Medical Genetics and Genomics (ACMG) guideline interpretation, this missense variant in BRWD1 was evaluated as uncertain significance. This is the first report of BRWD1 gene links to the MMAF and likely PCD phenotype.

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