ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)

gnomAD frequency: 0.00001  dbSNP: rs767818381
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071186 SCV001236474 uncertain significance Bardet-Biedl syndrome 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 11 of the TRIM32 protein (p.Leu11Pro). This variant is present in population databases (rs767818381, gnomAD 0.03%). 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: 864083). 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.
Fulgent Genetics, Fulgent Genetics RCV002482140 SCV002796887 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413896 SCV004108596 uncertain significance TRIM32-related disorder 2022-11-17 criteria provided, single submitter clinical testing The TRIM32 c.32T>C variant is predicted to result in the amino acid substitution p.Leu11Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-119460053-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004030779 SCV004972047 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.32T>C (p.L11P) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a T to C substitution at nucleotide position 32, causing the leucine (L) at amino acid position 11 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.