Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498153 | SCV000589298 | pathogenic | not provided | 2016-05-12 | criteria provided, single submitter | clinical testing | The c.5867_5870delACAG deletion in the ABCA4 gene causes a frameshift starting with codon Aspartic Acid 1956, changes this amino acid to an Glycine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Asp1956GlyfsX17. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we interpret it as pathogenic. |