ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.82-2A>G

dbSNP: rs2073116488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191026 SCV001358696 uncertain significance Cardiomyopathy 2019-07-20 criteria provided, single submitter clinical testing This variant is located in intron 2 of the DSG2 gene. Computational splicing tools predict that this variant may have a significant impact on RNA splicing. Although RNA study has not been performed to confirm the prediction, this variant is expected to result in an absent or disrupted protein product. 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). Clinical significance of loss-of-function truncations and splice variants in the DSC2 gene is not clearly established. 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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