ClinVar Miner

Submissions for variant NM_001077415.3(CRELD1):c.959del (p.Gln320fs)

gnomAD frequency: 0.00035  dbSNP: rs759473511
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658951 SCV000780753 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing CRELD1: PVS1:Supporting
Undiagnosed Diseases Network, NIH RCV001255986 SCV001432767 uncertain significance CRELD1-related condition 2020-02-04 criteria provided, single submitter clinical testing
Invitae RCV001348769 SCV001543084 uncertain significance Atrioventricular septal defect, susceptibility to, 2 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln320Argfs*25) in the CRELD1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CRELD1 cause disease. This variant is present in population databases (rs759473511, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CRELD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 546928). 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 RCV000658951 SCV001820429 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing Identified in an individual with seizures who also harbored a second CRELD1 variant in published literature (Prokop et al., 2020); Frameshift variant predicted to result in protein truncation as the last 101 amino acids are lost and replaced with 24 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 31589614, 32437232, 34328347)
Revvity Omics, Revvity RCV001348769 SCV003828629 uncertain significance Atrioventricular septal defect, susceptibility to, 2 2021-11-12 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.