ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)

gnomAD frequency: 0.00001  dbSNP: rs1464059546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890520 SCV002155324 pathogenic not provided 2021-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TRMU-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gln2*) 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).
Baylor Genetics RCV004571516 SCV005054387 likely pathogenic Aminoglycoside-induced deafness 2023-12-13 criteria provided, single submitter clinical testing

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