ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)

gnomAD frequency: 0.00003  dbSNP: rs397514588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852664 SCV002235006 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg183*) in the OTOGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOGL are known to be pathogenic (PMID: 23122586). This variant is present in population databases (rs397514588, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with moderate hearing loss (PMID: 23122586). ClinVar contains an entry for this variant (Variation ID: 39779). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003894841 SCV004717158 pathogenic OTOGL-related disorder 2023-10-18 criteria provided, single submitter clinical testing The OTOGL c.547C>T variant is predicted to result in premature protein termination (p.Arg183*). This variant was reported along with a splicing variant in three siblings with sensorineural hearing loss (Yariz. 2012. PubMed ID: 23122586; Oonk. 2014. PubMed ID: 24378291). This variant is reported in 0.0074% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-80623121-C-T). Nonsense variants in OTOGL are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000033001 SCV000056780 pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2012-11-02 no assertion criteria provided literature only

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