ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.523+1_523+2del

dbSNP: rs1598810829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809136 SCV000949277 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-11-20 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 5 of the DSG2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 653370). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV001836897 SCV002097491 likely pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic in association with DSG2-related disease or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar as a likely pathogenic variant (ClinVar Variant ID# 653370; ClinVar); This variant is associated with the following publications: (PMID: 33684294, 31638835, 27535533, 26582918)
Fulgent Genetics, Fulgent Genetics RCV002507404 SCV002816883 likely pathogenic Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-08-13 criteria provided, single submitter clinical testing

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