ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)

dbSNP: rs1423777622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000785619 SCV000924199 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330949 SCV004038527 pathogenic Nonsyndromic genetic hearing loss 2023-08-09 criteria provided, single submitter clinical testing Variant summary: OTOF c.2965_2967delTTC (p.Phe989del) results in an in-frame deletion that is predicted to remove one amino acid from the C2 domain (IPR000008) of encoded protein sequence. The variant allele was found at a frequency of 4.1e-06 in 244638 control chromosomes (gnomAD). c.2965_2967delTTC has been reported in the literature in the homozygous state in multiple individuals affected with Nonsyndromic Hearing Loss And Deafness, Type 9 from at least two different consanguineous Pakistani families, at least one of which was well genotyped, undergoing homozygosity mapping, multigene panel testing of multiple family members, and whole exome sequencing in one of the affected probands (e.g. Naz_2017, Richard_2019). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 27573290, 30303587). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291120 SCV001479486 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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