Submissions for variant NM_024422.6(DSC2):c.2460A>G (p.Arg820=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV004619879	SCV005114973	uncertain significance	Cardiovascular phenotype	2024-04-21	criteria provided, single submitter	clinical testing	The c.2460A>G variant (also known as p.R820R), located in coding exon 15 of the DSC2 gene, results from an A to G substitution at nucleotide position 2460. This nucleotide substitution does not change the arginine at codon 820. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV005402148	SCV006062198	uncertain significance	Cardiomyopathy	2024-07-29	criteria provided, single submitter	clinical testing	This variant is located in the DSC2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSC2-related disorders in the literature. This variant has been identified in 1/251184 chromosomes 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.