ClinVar Miner

Submissions for variant NM_173591.3(OTOGL):c.1558C>T (p.Gln520Ter) (rs371465450)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598640 SCV000710001 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing The Q520X variant in the OTOGL gene has been reported previously in association with hearing impairment in an affected individual who was compound heterozygous for the Q520X variant and another nonsense variant (Bonnet et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q520X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q520X as a pathogenic variant.
GenomeConnect, ClinGen RCV000844972 SCV000986798 not provided Deafness, autosomal recessive 84b no assertion provided phenotyping only Variant interpretted as pathogenic and reported, most recently, on 06/29/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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