ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)

dbSNP: rs1986683368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177969 SCV001342287 uncertain significance Cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant replaces the translation stop codon of the DSC2 gene with leucine and adds 25 new amino acids before introducing a translation stop codon. To our knowledge, functional 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). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Labcorp Genetics (formerly Invitae), Labcorp RCV001374096 SCV001570870 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-04-23 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 919658). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the DSC2 mRNA. It is expected to extend the length of the DSC2 protein by 25 additional amino acid residues.
GeneDx RCV003318665 SCV004022935 uncertain significance not provided 2023-01-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Normal stop codon changed to a Leu codon, leading to the addition of 25 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge

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