Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196603 | SCV000252010 | pathogenic | not provided | 2014-05-12 | criteria provided, single submitter | clinical testing | c.639_640delGA: p.Lys214AsnfsX2 (K214NfsX2) in exon 6 of the OPA1 gene (NM_015560.2). The normal sequence with the bases that are deleted in braces is: AAGA{GA}AAAT. The c.639_640delGA mutation in the OPA1 gene has been reported previously in association with autosomal dominant optic atrophy (ADOA) (Yu-Wai-Man et al., 2011). The deletion causes a frameshift starting with codon Lysine 214, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Lys214AsnfsX2. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in OAPEO-MITOP panel(s). |
Eurofins Ntd Llc |
RCV000196603 | SCV000861611 | pathogenic | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000196603 | SCV001144794 | pathogenic | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |