ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.121A>G (p.Ile41Val)

gnomAD frequency: 0.00001  dbSNP: rs191106606
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000648409 SCV000770229 uncertain significance Developmental and epileptic encephalopathy, 12 2021-10-20 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 PLCB1-related conditions. This variant is present in population databases (rs191106606, ExAC 0.02%). This sequence change replaces isoleucine with valine at codon 41 of the PLCB1 protein (p.Ile41Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine.

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.