ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.22C>T (p.Arg8Trp) (rs74315285)

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
Invitae RCV001051021 SCV001215154 likely pathogenic not provided 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 8 of the BSND protein (p.Arg8Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Bartter syndrome (PMID: 11687798, 29254190). ClinVar contains an entry for this variant (Variation ID: 4381). This variant has been reported to affect BSND protein function (PMID: 18776122). This variant disrupts the p.Arg8 amino acid residue in BSND. Other variant(s) that disrupt this residue have been observed in individuals with BSND-related conditions (PMID: 11687798, 30174009), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000004631 SCV000024805 pathogenic Bartter disease type 4a 2001-11-01 no assertion criteria provided literature only
Natera, Inc. RCV001273324 SCV001456269 likely pathogenic Bartter syndrome 2020-09-16 no assertion criteria provided clinical testing

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.