Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001915299 | SCV002167908 | uncertain significance | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 31 of the NDUFS6 protein (p.Arg31Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NDUFS6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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, |
RCV002490184 | SCV002781973 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 9 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004651793 | SCV005144881 | uncertain significance | Inborn genetic diseases | 2024-06-04 | criteria provided, single submitter | clinical testing | The c.92G>T (p.R31L) alteration is located in exon 1 (coding exon 1) of the NDUFS6 gene. This alteration results from a G to T substitution at nucleotide position 92, causing the arginine (R) at amino acid position 31 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |