DTNA was first reported in relation to autosomal dominant congenital heart disease in 2001 (Ichida et al., PMID: 11238270). One missense variant has been reported in a family with left ventricular noncompaction and ventricular septal defect. Of note, this gene has also been implicated in dilated cardiomyopathy and was separately curated for that gene-disease relationship. Evidence disputing this gene-disease relationship includes case-level data. The one missense variant reported is too frequent to cause disease. There are additional probands with deletions including DTNA that also include other genes (26893613, 24036431, 31390163). Therefore, none of the published genetic evidence was scorable. Evidence supporting this gene-disease relationship includes protein interaction data only (26744331). In summary, due to the lack of convincing genetic evidence, the evidence supporting the relationship between* DTNA* and autosomal dominant congenital heart disease has been disputed and no valid evidence remains to support the claim. More evidence is needed to either support or entirely refute the role DTNA plays in this disease. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date February 6th, 2024 (SOP Version 10).
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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