ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4082-1G>C

gnomAD frequency: 0.00002  dbSNP: rs756233978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449690 SCV001652942 likely pathogenic Rare genetic deafness 2020-06-25 criteria provided, single submitter clinical testing The c.4055-1G>C variant in OTOGL has not been previously reported in individuals with hearing loss but has been identified in 0.022% (4/17858) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). However, this frequency is low enough to be consistent with a recessive allele frequency. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the OTOGL gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PVS1, PM2.

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