ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter)

gnomAD frequency: 0.00002  dbSNP: rs866476223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569884 SCV001794050 pathogenic not provided 2024-03-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30139988)
Labcorp Genetics (formerly Invitae), Labcorp RCV001569884 SCV003483998 pathogenic not provided 2022-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 520437). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 30139988). This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg2485*) in the OTOG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOG are known to be pathogenic (PMID: 23122587).
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center RCV000624828 SCV000740320 pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2017-12-06 no assertion criteria provided research Severe to profound SNHL

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