ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys)

dbSNP: rs1057520867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431668 SCV000518829 likely benign not specified 2015-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002446668 SCV002754150 uncertain significance Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The p.R1019K variant (also known as c.3056G>A), located in coding exon 15 of the DSG2 gene, results from a G to A substitution at nucleotide position 3056. The arginine at codon 1019 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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