MCM2 was reported in relation to autosomal dominant nonsyndromic genetic deafness in 2015 (Gao et al., PMID: 26196677). At least 1 unique variant (missense) has been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least 1 proband in 1 publication (PMID: 26196677). Variants in this gene segregated with disease in 8 additional family members. This gene-disease association is supported by an expression study and in vitro functional assay. 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 Working Group on 2/6/2020.
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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