ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys)

gnomAD frequency: 0.00001  dbSNP: rs760202414
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
Eurofins Ntd Llc (ga) RCV000275706 SCV000345022 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494894 SCV002782062 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518138 SCV003485157 uncertain significance Bardet-Biedl syndrome 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 144 of the TRIM32 protein (p.Glu144Lys). This variant is present in population databases (rs760202414, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. ClinVar contains an entry for this variant (Variation ID: 290461). 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. 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.

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.