ClinVar Miner

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

gnomAD frequency: 0.00035  dbSNP: rs759473511
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Total submissions: 6
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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 disorder 2020-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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
OMIM RCV003989115 SCV004805653 pathogenic Jeffries-Lakhani neurodevelopmental syndrome 2024-03-29 no assertion criteria provided literature only

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