Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674989 | SCV000800410 | likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472178 | SCV004204382 | likely pathogenic | Aminoglycoside-induced deafness | 2023-05-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768017 | SCV004634176 | pathogenic | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg294Glyfs*12) in the TRMU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. ClinVar contains an entry for this variant (Variation ID: 558684). For these reasons, this variant has been classified as Pathogenic. |