ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) (rs142927608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617463 SCV000735932 uncertain significance Cardiovascular phenotype 2017-07-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000181338 SCV000233635 uncertain significance not provided 2014-04-07 criteria provided, single submitter clinical testing p.Arg2063Gln (CGG>CAG): c.6188 G>A in exon 24 of the DSP gene (NM_004415.2). The R2063Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R2063Q 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. The R2063Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is possibly damaging to the protein structure/function. Nevertheless, only one additional missense mutation in a nearby residue (G2056R) has been reported in association with ARVC. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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