ClinVar Miner

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

dbSNP: rs2073149649
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Total submissions: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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)

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