Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002050245 | SCV002114296 | likely pathogenic | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with TRMU-related conditions. This variant is present in population databases (rs773484808, ExAC 0.006%). This sequence change affects an acceptor splice site in intron 9 of the TRMU gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). |
| Fulgent Genetics, |
RCV002482408 | SCV002781769 | likely pathogenic | Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2021-07-25 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004571129 | SCV005054383 | likely pathogenic | Aminoglycoside-induced deafness | 2024-02-28 | criteria provided, single submitter | clinical testing |