Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522897 | SCV000622092 | pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The c.1346_1347delAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant causes a frameshift starting with codon Lysine 449, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 45 of the new reading frame, denoted p.Lys449ArgfsX45. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic. |
Invitae | RCV000528431 | SCV000628850 | pathogenic | Neurofibromatosis, type 2 | 2017-12-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). This variant has not been reported in the literature in individuals with NF2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys449Argfs*45) in the NF2 gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000528431 | SCV002045426 | pathogenic | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |