ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.69+2T>C

dbSNP: rs1987974114
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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 RCV001188799 SCV001355941 uncertain significance Cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing This variant causes a T>C nucleotide substitution at the +2 position of intron 1 of the DSC2 gene. Splice prediction tools suggest that this variant may have a significant impact on 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). Although there is a suspicion for a pathogenic role, clinical significance of loss-of-function DSC2 variants in autosomal dominant arrhythmogenic right ventricular cardiomyopathy is not yet clearly established. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001233902 SCV001406517 likely pathogenic Arrhythmogenic right ventricular dysplasia 11 2023-04-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 926303). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This sequence change affects a donor splice site in intron 1 of the DSC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551).

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