ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs)

dbSNP: rs1592726662
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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 RCV000826123 SCV000967632 likely pathogenic Rare genetic deafness 2018-02-05 criteria provided, single submitter clinical testing The p.Asn1665fs variant in OTOGL has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1665 and leads to a premature termination codon 13 amino acids downstream. This alteration is then predicted to lead to a truncated or ab sent protein. Loss of function of the OTOGL gene is an established disease mecha nism in autosomal recessive hearing loss. In summary, although additional studie s are required to fully establish its clinical significance, this variant is lik ely pathogenic for autosomal recessive hearing loss based on its predicted impac t on the protein. ACMG/AMP Criteria applied: PVS1, PM2.

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