Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000197130 | SCV000252454 | uncertain significance | not provided | 2015-10-14 | criteria provided, single submitter | clinical testing | The c.647-9 C>G sequence change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Mutations in the TYMP gene are associated with the autosomal recessive disorder mitochondrial DNA depletion syndrome 1 (MNGIE type). Multiple in-silico splice prediction models predict that c.647-9 C>G either destroys or damages the splice acceptor site in intron 5. However, the true affect in vivo is not known. Therefore, based on the currently available information, it is unclear whether c.647-9 C>G is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
| Illumina Laboratory Services, |
RCV001143969 | SCV001304540 | uncertain significance | Mitochondrial DNA depletion syndrome 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. |
| Labcorp Genetics |
RCV000197130 | SCV003283910 | likely benign | not provided | 2025-01-20 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001828032 | SCV002081625 | uncertain significance | Mitochondrial neurogastrointestinal encephalomyopathy | 2019-11-11 | no assertion criteria provided | clinical testing |