ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly)

gnomAD frequency: 0.00002  dbSNP: rs774316527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525519 SCV000636497 uncertain significance Bardet-Biedl syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 349 of the TRIM32 protein (p.Ala349Gly). This variant is present in population databases (rs774316527, gnomAD 0.06%). 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: 462945). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Eurofins Ntd Llc (ga) RCV000598259 SCV000706133 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476137 SCV002801545 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000598259 SCV005195549 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935444 SCV004755741 uncertain significance TRIM32-related disorder 2023-12-31 no assertion criteria provided clinical testing The TRIM32 c.1046C>G variant is predicted to result in the amino acid substitution p.Ala349Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of South Asian descent in gnomAD, which may be too frequent for a disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.