ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)

dbSNP: rs912124448
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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 RCV001524870 SCV001734838 uncertain significance Cardiomyopathy 2020-12-15 criteria provided, single submitter clinical testing This missense variant replaces leucine with phenylalanine at codon 195 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 not been identified 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.
Invitae RCV001872057 SCV002314035 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-04-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DSC2-related conditions. This sequence change replaces leucine with phenylalanine at codon 195 of the DSC2 protein (p.Leu195Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

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