ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1414A>G (p.Met472Val)

gnomAD frequency: 0.00034  dbSNP: rs2277596
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085941 SCV000253634 likely benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246726 SCV000315045 likely benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000490439 SCV001139651 benign Bardet-Biedl syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000490439 SCV001277067 uncertain significance Bardet-Biedl syndrome 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000132689 SCV001986317 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect, as a zebrafish embryo assay suggests a null mutation (Zaghloul et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in two individuals with nephronophthisis-related ciliopathy, however no second BBS4 variant was identified (Kang et al., 2016); Observed in mother and daughter with Bardet-Biedl syndrome who were both also homozygous for a variant in the BBS1 gene (Beales et al., 2003); This variant is associated with the following publications: (PMID: 15224652, 20498079, 12677556, 26260382, 27491411, 23142271, 12872256)
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132689 SCV000172642 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490439 SCV000267222 likely pathogenic Bardet-Biedl syndrome 4 2016-03-18 flagged submission reference population

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.