ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.45+5G>C

dbSNP: rs1423214260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001904503 SCV002119807 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-12-21 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site. 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: 1359710). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002331364 SCV002635421 uncertain significance Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The c.45+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 1 in the DSG2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002503406 SCV002775562 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-09-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009206 SCV004839438 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the +5 position of intron 1 of the DSG2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. 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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