The MYO1C gene has been associated with autosomal dominant nonsyndromic hearing loss using the ClinGen Clinical Validity Framework as of 6/26/2018. This association was made using case-level data only. Multiple missense variants have been reported in humans by Zadro et al. 2009, however each of these variants is present in high frequency in gnomAD. The loss-of-function variants reported by Ji et al. 2014 have no family history information or functional evidence to prove variant impact. In summary, there is convincing evidence disputing the association between autosomal dominant nonsyndromic hearing loss. More evidence is needed to either support or refute the role MYO1C plays in this disease. This classification was approved by the ClinGen Hearing Loss Working Group on 6/26/2018.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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