ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.495dup (p.Gly166fs)

dbSNP: rs781532110
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
GeneDx RCV000290082 SCV000330130 pathogenic not provided 2023-09-17 criteria provided, single submitter clinical testing 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; Not observed at a significant frequency in large population cohorts (gnomAD); Observed in patients with ARVC referred for genetic testing at GeneDx and in the published literature (Walsh et al., 2017); This variant is associated with the following publications: (PMID: 31447099, 31402444, 27532257, 33087929)
Invitae RCV000813935 SCV000954319 pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-10-17 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: 280230). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). This variant is present in population databases (rs781532110, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gly166Trpfs*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).
Fulgent Genetics, Fulgent Genetics RCV002503975 SCV002813246 pathogenic Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-11-08 criteria provided, single submitter clinical testing

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.