ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) (rs759869347)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168645 SCV000233603 uncertain significance not provided 2014-01-29 criteria provided, single submitter clinical testing p.Arg941Gln (CGA>CAA): c.2822 G>A in exon 20 of the DSP gene (NM_004415.2). The R941Q variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The R941Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R941Q is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The R941 residue is conserved across most species. In silico algorithms are not consistent in their predictions but at least two concur that R941Q is damaging to the protein structure/function. Additionally, definitive mutations in nearby residues have not been reported (Van der Zwaag P et al., 2009), indicating this region of the protein may tolerate change. With the clinical and molecular information available at this time, we cannot definitively determine if R941Q is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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