ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1036_1064del (p.Leu346fs)

gnomAD frequency: 0.00001  dbSNP: rs765762750
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002210999 SCV002496316 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 87 amino acids are replaced with 66 different amino acids, although loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV002210999 SCV004224385 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002210999 SCV004521648 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1675270). This variant has not been reported in the literature in individuals affected with GFAP-related conditions. This variant is present in population databases (rs765762750, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu346Glnfs*67) in the GFAP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acid(s) of the GFAP protein.

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.