ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.1294C>A (p.Gln432Lys)

dbSNP: rs201849167
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768154 SCV002008592 likely benign not provided 2021-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040715 SCV003694839 uncertain significance not specified 2024-07-27 criteria provided, single submitter clinical testing The c.1294C>A (p.Q432K) alteration is located in exon 10 (coding exon 10) of the BDP1 gene. This alteration results from a C to A substitution at nucleotide position 1294, causing the glutamine (Q) at amino acid position 432 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001768154 SCV005222696 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758193 SCV005351080 likely benign BDP1-related disorder 2024-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.