ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.153_159del (p.Val52fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003123560 SCV003801306 likely pathogenic Nonsyndromic genetic hearing loss 2023-01-31 criteria provided, single submitter clinical testing Variant summary: OTOF c.153_159delGGTGGCC (p.Val52AlafsX36) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251468 control chromosomes (gnomAD). To our knowledge, no occurrence of c.153_159delGGTGGCC in individuals affected with Nonsyndromic Hearing Loss And Deafness, Type 9 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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