ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)

gnomAD frequency: 0.00002  dbSNP: rs1227564823
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187384 SCV001354167 uncertain significance Cardiomyopathy 2023-02-28 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 7 of the DSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/121616 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001187384 SCV002043570 uncertain significance Cardiomyopathy 2020-02-24 criteria provided, single submitter clinical testing
Invitae RCV002559127 SCV003519776 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-06-10 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 925438). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 7 of the DSC2 protein (p.Ser7Phe).
All of Us Research Program, National Institutes of Health RCV004008693 SCV004819394 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2023-09-18 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 7 of the DSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact 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 been identified in 2/121616 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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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