ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) (rs199918720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521159 SCV000617054 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing The I285T variant of uncertain significance in the DSC2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in an external variant database. However, the Exome Aggregation Consortium (ExAC) reports I285T was observed in approximately 0.2% of alleles from individuals of European (Finnish) background, indicating it may be a rare variant in this population. Nevertheless, the I285T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the extracellular cadherin 2 domain where only amino acids with similar properties to Isoleucine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Illumina Clinical Services Laboratory,Illumina RCV000379937 SCV000408103 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466136 SCV000561707 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-12-03 criteria provided, single submitter clinical testing

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