ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2438A>C (p.His813Pro)

dbSNP: rs766881629
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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 RCV001177857 SCV001342139 likely benign Cardiomyopathy 2020-04-14 criteria provided, single submitter clinical testing
Invitae RCV001875863 SCV002206609 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 813 of the DSC2 protein (p.His813Pro). This variant is present in population databases (rs766881629, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 919602). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002451363 SCV002736707 uncertain significance Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing The p.H813P variant (also known as c.2438A>C), located in coding exon 15 of the DSC2 gene, results from an A to C substitution at nucleotide position 2438. The histidine at codon 813 is replaced by proline, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004006419 SCV004816047 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-12-13 criteria provided, single submitter clinical testing

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