Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |