Submissions for variant NM_001927.4(DES):c.-30_-18dup

gnomAD frequency: 0.01968  dbSNP: rs794728983

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000183343	SCV001442560	benign	not specified	2020-10-19	criteria provided, single submitter	clinical testing	Variant summary: DES c.-30_-18dup13 is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.0011 in 165222 control chromosomes, predominantly at a frequency of 0.024 within the African or African-American subpopulation in the gnomAD database, including 5 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 768-fold of the estimated maximal expected allele frequency for a pathogenic variant in DES causing Dilated Cardiomyopathy phenotype (3.1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. A co-occurrence with a pathogenic variant has been reported (MYBPC3 c.3330+5G>C; Internal testing), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
GeneDx	RCV001529191	SCV001754176	benign	not provided	2015-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000183343	SCV000235775	benign	not specified	2014-06-04	flagged submission	clinical testing	The variant is found in DCM,DCM-CRDM panel(s).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529191	SCV001742242	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000183343	SCV001919457	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529191	SCV001956893	likely benign	not provided		no assertion criteria provided	clinical testing