ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) (rs769706539)

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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 RCV000724997 SCV000333076 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000724997 SCV000536511 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing The R2752Q variant of uncertain significance in the DSP gene has not been published as pathogenic or been reported as benign to our knowledge. R2752Q is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2752Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Color RCV000771979 SCV000904934 uncertain significance Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in C-terminal plakin repeat domain C of the DSP protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in an individual affected with cardiovascular disorders in the literature. This variant has been identified in 8/277092 chromosomes (7/24000 African chromosomes) in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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