ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser)

gnomAD frequency: 0.00001  dbSNP: rs899549661
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
Eurofins Ntd Llc (ga) RCV000734977 SCV000863162 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247253 SCV001420662 uncertain significance Bardet-Biedl syndrome 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 653 of the TRIM32 protein (p.Pro653Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 598557). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000734977 SCV003823466 uncertain significance not provided 2019-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047009 SCV005682526 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-01-03 criteria provided, single submitter clinical testing

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.