ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.45+1G>T

dbSNP: rs1568098570
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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 RCV001187383 SCV001354166 uncertain significance Cardiomyopathy 2018-12-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance: This variant alters the canonical splice donor site in intron 1 of the DSG2 gene. This variant is predicted to cause aberrant splicing and likely results in an absent or disrupted protein product. To our knowledge, functional RNA assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Although this variant is suspected to be deleterious, the pathogenicity of this variant cannot be determined conclusively in the absence of functional and clinical data.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559126 SCV003348623 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-05-02 criteria provided, single submitter clinical testing 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: 925437). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 1 of the DSG2 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 DSG2 are known to be pathogenic (PMID: 17105751, 31386562).

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