Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778943 | SCV000915363 | uncertain significance | Mitochondrial complex I deficiency | 2018-08-17 | criteria provided, single submitter | clinical testing | The NDUFS2 c.495_496delCT (p.Arg166GlyfsTer39) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database despite being located in a region of good sequencing coverage. It is therefore presumed to be rare. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Arg166GlyfsTer39 variant is classified as a variant of unknown significance but suspicious for pathogenicity for mitochondrial respiratory chain complex I deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |