ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2642T>A (p.Leu881His)

gnomAD frequency: 0.00001  dbSNP: rs1231247825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001928725 SCV002204954 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-08-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 881 of the DSC2 protein (p.Leu881His). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1423280).
Ambry Genetics RCV002425260 SCV002743383 uncertain significance Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing The p.L881H variant (also known as c.2642T>A), located in coding exon 16 of the DSC2 gene, results from a T to A substitution at nucleotide position 2642. The leucine at codon 881 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003120756 SCV003798808 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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