Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521728 | SCV000617289 | pathogenic | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | The c.97+5 G>A splice site variant in the NDUFA11 gene has been previously reported in association with mitochondrial complex I deficiency in several unrelated individuals who were homozygous for c.97+5 G>A (Berger et al., 2008). This pathogenic variant reduces the quality of the splice donor site in intron 1, and results in abnormal gene splicing (Berger et al., 2008). Therefore, we interpret c.97+5 G>A to be a pathogenic variant. |
OMIM | RCV000000544 | SCV000020693 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 14 | 2008-03-01 | no assertion criteria provided | literature only |