ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.2352del (p.Thr785fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wangler Lab, Baylor College of Medicine RCV002287577 SCV002577612 likely pathogenic Autosomal recessive nonsyndromic hearing loss 22 criteria provided, single submitter clinical testing This OTOA frameshift variant at c.2352del (p.T785Lfs*80) was seen on exome through the Texome Project (R01HG011795). It is located in exon 22 of 29 and is predicted to be deleterious (PVS1). This change is not seen in gnomAD (PM2). We predict this variant to be likely pathogenic for autosomal recessive deafness.
Baylor Genetics RCV002287577 SCV003836212 likely pathogenic Autosomal recessive nonsyndromic hearing loss 22 2022-03-01 criteria provided, single submitter clinical testing

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