Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000319676 | SCV000330812 | pathogenic | not provided | 2016-09-13 | criteria provided, single submitter | clinical testing | The c.2656delC pathogenic variant in the OFD1 gene causes a frameshift starting with codon Glutamine 886, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Gln886LysfsX2. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.2656delC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. |