ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002310617 SCV002601645 uncertain significance Hearing loss, autosomal recessive 112 2022-09-26 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 25 of the BDP1 gene that results in the amino acid substitution of Proline for Arginine at codon 1848 was detected . The p.Arg1848Pro variant has not been reported in the 1000 genomes and gnomAD databases. The in silico predictions# of the variant are probably damaging by PolyPhen-2 (HumDiv), damaging by SIFT and LRT. The reference codon is conserved across mammals.In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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.