ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7621+2T>C (rs1401870617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603000 SCV000712465 likely pathogenic Rare genetic deafness 2016-10-06 criteria provided, single submitter clinical testing The c.7621+2T>C variant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies is insufficient to assess the frequency of this variant. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicin g leading to an abnormal or absent protein. Two loss of function variants in the OTOG gene have been reported to segregate with hearing loss in two families (Sc hraders 2012), and disruption of Otog in mice resulted in deafness supporting of a loss-of-function mechanism for the disease (Simmler 2000). In summary, althou gh additional evidence is required to strengthen the gene-disease association be tween OTOG and hearing loss, currently available data support that the c.7621+2T >C variant is likely pathogenic.

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