ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1787G>A (p.Arg596His)

dbSNP: rs750300057
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 RCV001309965 SCV001499481 uncertain significance Bardet-Biedl syndrome 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 596 of the TRIM32 protein (p.Arg596His). This variant is present in population databases (rs750300057, 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: 1012070). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002493624 SCV002778582 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968001 SCV005522565 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.1787G>A (p.R596H) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a G to A substitution at nucleotide position 1787, causing the arginine (R) at amino acid position 596 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003405530 SCV004114818 uncertain significance TRIM32-related disorder 2024-03-28 no assertion criteria provided clinical testing The TRIM32 c.1787G>A variant is predicted to result in the amino acid substitution p.Arg596His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD. 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.