ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.803_810dup (p.Val271fs)

dbSNP: rs2073149649
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198540 SCV001369518 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2019-07-09 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV001198540 SCV002131573 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 931696). This premature translational stop signal has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 30847666). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val271Ilefs*4) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562).
GeneDx RCV002284472 SCV002574683 likely pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing Reported in a patient referred for arrhythmogenic right ventricular cardiomyopathy (ARVC) (van Lint et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30847666)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.