Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Human Genetics, |
RCV000185541 | SCV000238420 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2015-01-29 | no assertion criteria provided | research | This test identified a heterozygous variant (c.2034_2042dup (p.Ala679_Asp681dup) in the OTOF gene. This gene has been associated prelingual nonsyndromic hearing loss (DFNB9; MIM: 601071) and temperature-sensitive nonsyndromic auditory neuropathy, both inherited in autosomal recessive manner. This variant is considered a variant of unknown significance, as it is a novel variant that has not been reported in literature and absent in reference databases. The change represents an in-frame duplication of three amino acids in a moderately conserved region, outside of any functional domain. |