ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2817del (p.Tyr940fs) (rs1567934773)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699399 SCV000828106 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-05-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSG2 gene (p.Tyr940Metfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acids of the DSG2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSG2-related disease. A different truncation downstream of this variant (p.Glu1020Alafs*18) has been determined to be likely pathogenic (PMID: 21397041, 20864495, 23381804). This suggests that deletion of this region of the DSG2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Color Health, Inc RCV001192101 SCV001360076 uncertain significance Cardiomyopathy 2019-12-04 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258112 SCV001434979 likely pathogenic Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10 2018-08-06 criteria provided, single submitter clinical testing The frameshift variant, c.2817delC (p.Tyr940Metfs*12) in the DSG2 gene is predicted to introduce a premature translation termination codon. It has not been seen in the general population according to the gnomAD database. Loss of function could be the mechanism for DSG2 protein (PMID 23911551, 23381804). Therefore, this variant is classified as likely pathogenic.

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