Submissions for variant NM_001943.5(DSG2):c.829-15G>C

dbSNP: rs2144322515

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001806248	SCV002053113	uncertain significance	Cardiomyopathy	2021-04-06	criteria provided, single submitter	clinical testing	This variant causes a G to C nucleotide substitution at the -15 position of intron 7 of the DSG2 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702167	SCV001928984	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702167	SCV001972002	likely benign	not provided		no assertion criteria provided	clinical testing