ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) (rs140663822)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181334 SCV000233631 uncertain significance not provided 2013-08-13 criteria provided, single submitter clinical testing p.Arg1943Gly (AGA>GGA): c.5827 A>G in exon 24 of the DSP gene (NM_004415.2). The Arg1943Gly variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1943Gly results in a non-conservative amino acid substitution of a positively charged Arginine with a non-polar Glycine at a position that is not well conserved across species. In silico analysis predicts Arg1943Gly is benign to the protein structure/function. No mutations in nearby residues have been reported in association with ARVC , indicating this region of the protein may be tolerant of change. The Arg1943Gly variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project.With the clinical and molecular information available at this time, we cannot definitively determine if Arg1943Gly is a disease-causing mutation or rare benign variant. The variant is found in ARVC panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000286712 SCV000465150 uncertain significance Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341732 SCV000465151 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391599 SCV000465152 uncertain significance Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302140 SCV000465153 uncertain significance Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing

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