ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)

dbSNP: rs776078563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642311 SCV000763980 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1114*) in the DSG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the DSG2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 534679). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
AiLife Diagnostics, AiLife Diagnostics RCV002223236 SCV002501410 uncertain significance not provided 2021-05-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000642311 SCV004183359 pathogenic Arrhythmogenic right ventricular dysplasia 10 2019-03-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Color Diagnostics, LLC DBA Color Health RCV003532220 SCV004363243 uncertain significance Cardiomyopathy 2023-02-01 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 15 of the DSG2 gene, creating a premature translation stop signal in the last coding exon. This variant is expected to escape nonsense-mediated decay and be expressed as a truncated protein. This variant has been reported in an individual affected with dilated cardiomyopathy and in two unaffected family members (PMID: 32826072). This variant has also been reported in a stillbirth case (PMID: 30615648), as well as in an individual with no documented incidence of cardiovascular disease (PMID: 33968641). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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