Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001591678 | SCV001815708 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 11 | 2020-11-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004039483 | SCV003717317 | uncertain significance | not specified | 2021-10-22 | criteria provided, single submitter | clinical testing | The c.457A>G (p.K153E) alteration is located in exon 2 (coding exon 1) of the NDUFAF1 gene. This alteration results from a A to G substitution at nucleotide position 457, causing the lysine (K) at amino acid position 153 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003120639 | SCV003785636 | uncertain significance | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 153 of the NDUFAF1 protein (p.Lys153Glu). This variant is present in population databases (rs571701028, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NDUFAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1213729). 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 not 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. |