Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001852023 | SCV002189632 | uncertain significance | not provided | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 245 of the NDUFAF1 protein (p.Gly245Arg). This variant is present in population databases (rs376344575, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of mitochondrial complex I deficiency (PMID: 21931170). ClinVar contains an entry for this variant (Variation ID: 30625). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NDUFAF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV000023600 | SCV002805619 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 11 | 2021-10-11 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000023600 | SCV000044891 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 11 | 2011-10-01 | no assertion criteria provided | literature only |