ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.904C>T (p.His302Tyr)

dbSNP: rs954562822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917996 SCV002168786 uncertain significance Bardet-Biedl syndrome 2021-10-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BBS10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 302 of the BBS10 protein (p.His302Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Fulgent Genetics, Fulgent Genetics RCV005002645 SCV005629258 uncertain significance Bardet-Biedl syndrome 10 2024-02-07 criteria provided, single submitter 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.