Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000283021 | SCV000330213 | pathogenic | not provided | 2016-02-29 | criteria provided, single submitter | clinical testing | The c.2719_2730del12insT pathogenic variant in the ANKRD11 gene has been not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2719_2730del12insT variant results in the replacement of the normal Lysine residue at position 907 with a premature Stop codon, denoted p.Lys907Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2719_2730del12insT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2719_2730del12insT as a pathogenic variant. |