ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5744G>A (p.Arg1915His) (rs146617683)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038067 SCV000061733 uncertain significance not specified 2016-08-14 criteria provided, single submitter clinical testing The p.Arg1915His variant in DSP has previously been identified by our laboratory in 1 individual with HCM and 1 individual with ARVC. This variant has also been identified in 7/10306 African chromosomes and 7/8640 East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs 146617683).Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. In summary, the clinical significance of t he p.Arg1915His variant is uncertain.
GeneDx RCV000766551 SCV000617125 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The R1915H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 7/8640 (0.08%) alleles from individuals of East Asian ancestry and in 7/10306 (0.07%) alleles from individuals of African ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The R1915H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is only conserved in mammals. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000624492 SCV000740328 uncertain significance Familial dilated cardiomyopathy 2016-11-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626866 SCV000747569 uncertain significance Palmoplantar blistering; Skin fragility with non-scarring blistering 2017-01-01 criteria provided, single submitter clinical testing

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