ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)

gnomAD frequency: 0.00019  dbSNP: rs139113789
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 RCV000558392 SCV000654277 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 807 of the TRAPPC11 protein (p.Val807Met). This variant is present in population databases (rs139113789, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. ClinVar contains an entry for this variant (Variation ID: 474349). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The methionine 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.
GeneDx RCV001591286 SCV001823495 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV001591286 SCV001880643 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000558392 SCV003820997 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-08-10 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.