ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.356-2_356-1del

dbSNP: rs2147053913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002038897 SCV002313668 likely pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1523468). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 3 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, Fulgent Genetics RCV002492399 SCV002794773 likely pathogenic Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-03-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475300 SCV004204384 likely pathogenic Aminoglycoside-induced deafness 2023-04-17 criteria provided, single submitter clinical testing

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