ABCC1 was first reported in relation to autosomal dominant nonsyndromic hearing loss in 2019 (Li et al., PMID: 31273342). 3 missense variants that have been reported in 3 probands in one publication (PMID: 31273342) are included in this curation. The variant segregated with disease in 10 members of one family. The affected individuals present with moderate to profound postlingual nonsyndromic hearing loss. The mechanism of pathogenicity is unclear. This gene-disease relationship is also supported by an expression study demonstrating ABCC1 localization on the stria vascularis as well as auditory nerves with a cytomembrane distribution (PMID: 31273342). Mouse models have also suggested a role for this gene in hearing loss, but relevant phenotypes were only observed following noise exposure (PMIDs: 38870779, 38951883). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Hearing Loss GCEP on the meeting date October 8, 2025 (SOP Version 11).
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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