ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2749C>T (p.Leu917Phe)

gnomAD frequency: 0.00003  dbSNP: rs554771345
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947908 SCV002187962 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 917 of the TRAPPC11 protein (p.Leu917Phe). 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1416483). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. This variant is present in population databases (rs554771345, gnomAD 0.007%).
Ambry Genetics RCV002557735 SCV003632822 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.2749C>T (p.L917F) alteration is located in exon 25 (coding exon 24) of the TRAPPC11 gene. This alteration results from a C to T substitution at nucleotide position 2749, causing the leucine (L) at amino acid position 917 to be replaced by a phenylalanine (F). 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.