ClinVar Miner

Submissions for variant NM_001077415.3(CRELD1):c.566del (p.Gly189fs)

dbSNP: rs1559337563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046479 SCV002317484 pathogenic Atrioventricular septal defect, susceptibility to, 2 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly189Valfs*56) in the CRELD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRELD1 are known to be pathogenic (PMID: 37947183). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1522151). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002046479 SCV003828626 uncertain significance Atrioventricular septal defect, susceptibility to, 2 2020-12-16 criteria provided, single submitter clinical testing

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