Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000985087 | SCV001520719 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 16 | 2019-09-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Gene |
RCV001555266 | SCV001776651 | uncertain significance | not provided | 2019-08-27 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31130284, 28454995) |
| Fulgent Genetics, |
RCV000985087 | SCV002778535 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 16 | 2022-05-10 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003117659 | SCV003801180 | uncertain significance | not specified | 2023-01-24 | criteria provided, single submitter | clinical testing | Variant summary: NDUFAF5 c.821T>A (p.Leu274Gln) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251344 control chromosomes. c.821T>A has been reported in the literature as a homozygous genotype in at-least one individual affected with features of Mitochondrial complex 1 deficiency/Leigh Syndrome, however, the possibility of additional independent homozygous cases or cohort overlap with the primary report in subsequent citations cannot be ruled out (example, PMID: 28454995, 31130284, 34645488). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Biochemical Molecular Genetic Laboratory, |
RCV000985087 | SCV001133047 | likely pathogenic | Mitochondrial complex 1 deficiency, nuclear type 16 | 2019-09-26 | no assertion criteria provided | clinical testing |