ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3])

dbSNP: rs794729640
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia 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.

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