Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000656733 | SCV000778462 | pathogenic | Ehlers-Danlos syndrome, classic-like, 2 | 2018-05-31 | criteria provided, single submitter | clinical testing | The homozygous c.917dup variant in exon 6 of AEBP1 gene was identified in two Greek siblings with an Ehlers-Danlos Syndrome associated connective tissue disorder. This variant is predicted to directly cause a premature termination codon (p.Tyr306*) and is only present in 2/229,558 alleles in gnomAD. Sanger sequencing of cDNA showed a predominant expression of the normal allele in the carrier mother. This indicates a nonsense-mediated decay of c.917dup allele, suggesting a null variant in the affected individuals. |
OMIM | RCV000656733 | SCV002103189 | pathogenic | Ehlers-Danlos syndrome, classic-like, 2 | 2022-03-08 | no assertion criteria provided | literature only |