ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) (rs1443187318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 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.

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