ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) (rs746482538)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000774096 SCV000907796 uncertain significance Cardiomyopathy 2018-10-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the central rod domain of the DSP protein that is thought to form a dimeric coiled coil. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with complex ventricular arrhythmia (PMID: 20525856). This variant has also been identified in 4/276730 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998524 SCV001154639 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing

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