Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494408 | SCV000582729 | pathogenic | not provided | 2015-10-27 | criteria provided, single submitter | clinical testing | The c.557delT pathogenic variant in the TBC1D24 gene has not been reported previously as apathogenic variant nor as a benign variant, to our knowledge. The c.557delT variant causes aframeshift starting with codon Leucine 186, changes this amino acid to a Arginine residue, and createsa premature Stop codon at position 2 of the new reading frame, denoted p.L186RfsX2. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.557delT variant was not observed in approximately 6,400 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. We interpret c.557delT as a pathogenic variant. |
Laboratoire Génétique Moléculaire, |
RCV000494408 | SCV001760721 | pathogenic | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing |