ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2250+1G>A

dbSNP: rs1986794200
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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 RCV001178765 SCV001343277 uncertain significance Cardiomyopathy 2019-12-17 criteria provided, single submitter clinical testing This variant causes a G>A nucleotide substitution at the +1 position of intron 14 of the DSC2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been performed 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). Clinical significance of loss-of-function truncation and splice variants in the DSC2 gene is not clearly established. 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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