Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486512 | SCV000568203 | pathogenic | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | The c.794_797delTTGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.794_797delTTGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.794_797delTTGA variant causes a frameshift starting with codon Isoleucine 265, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 42 of the new reading frame, denoted p.Ile265ThrfsX42. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic. |
Ce |
RCV000486512 | SCV001250175 | pathogenic | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | OPA1: PVS1, PM2 |
Athena Diagnostics Inc | RCV000486512 | SCV002771117 | pathogenic | not provided | 2021-07-02 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. |
Invitae | RCV000486512 | SCV004292245 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile265Thrfs*42) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with optic atrophy (PMID: 11440989). ClinVar contains an entry for this variant (Variation ID: 419963). For these reasons, this variant has been classified as Pathogenic. |