ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) (rs763242004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595774 SCV000704872 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV001181084 SCV001346160 uncertain significance Cardiomyopathy 2021-01-06 criteria provided, single submitter clinical testing This missense variant replaces serine with arginine at codon 391 of the DSG2 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 RCV001343860 SCV001537878 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-06-29 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 391 of the DSG2 protein (p.Ser391Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 499401). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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