ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.690G>A (p.Glu230=)

gnomAD frequency: 0.00001  dbSNP: rs767433640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177810 SCV001342082 uncertain significance Cardiomyopathy 2023-11-01 criteria provided, single submitter clinical testing This synonymous variant does not change the encoded amino acid at codon 230 of the DSG2 protein, but it causes a G to A substitution at the last nucleotide of exon 6 of the DSG2 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/249404 chromosomes 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.
Invitae RCV002555479 SCV003462149 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-10-29 criteria provided, single submitter clinical testing This sequence change affects codon 230 of the DSG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSG2 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. This variant is present in population databases (rs767433640, gnomAD 0.01%). 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: 919571). 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 is not likely to affect RNA splicing. 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.

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