ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) (rs397514608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760466 SCV000890355 likely pathogenic not provided 2018-09-26 criteria provided, single submitter clinical testing The R2187X nonsense variant in the OTOG gene has been reported previously in the compound heterozygous state in association with nonsyndromic hearing loss (Schraders et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 3/22594 (0.0133%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000033040 SCV000056820 pathogenic Deafness, autosomal recessive 18b 2012-11-02 no assertion criteria provided literature only

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