Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002721730 | SCV003005994 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NDUFS2-related conditions. This variant is present in population databases (rs777685133, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 282 of the NDUFS2 protein (p.Glu282Ala). |
Ambry Genetics | RCV002721729 | SCV003639673 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.845A>C (p.E282A) alteration is located in exon 9 (coding exon 8) of the NDUFS2 gene. This alteration results from a A to C substitution at nucleotide position 845, causing the glutamic acid (E) at amino acid position 282 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003348902 | SCV004048806 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |