Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001120243 | SCV001278719 | uncertain significance | Mitochondrial DNA depletion syndrome, myopathic form | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Labcorp Genetics |
RCV001856578 | SCV002225872 | uncertain significance | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 207 of the TK2 protein (p.Glu207Val). This variant is present in population databases (rs141225776, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 887483). 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: "Probably Damaging"; 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. |
| Gene |
RCV001856578 | SCV002818031 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV004032222 | SCV004966384 | uncertain significance | Inborn genetic diseases | 2023-12-06 | criteria provided, single submitter | clinical testing | The c.620A>T (p.E207V) alteration is located in exon 9 (coding exon 9) of the TK2 gene. This alteration results from a A to T substitution at nucleotide position 620, causing the glutamic acid (E) at amino acid position 207 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |