Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000200717 | SCV000251828 | uncertain significance | not provided | 2014-09-04 | criteria provided, single submitter | clinical testing | p.Ser65Cys (AGC>TGC): c.193 A>T in exon 2 of the NDUFAF3 gene (NM_199069.1). A variant of unknown significance has been identified in the NDUFAF3 gene. The S65C variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The S65C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
| Illumina Laboratory Services, |
RCV001145085 | SCV001305725 | uncertain significance | Mitochondrial complex I deficiency, nuclear type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Invitae | RCV000200717 | SCV004511425 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |