ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) (rs757065157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444582 SCV000529527 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSC2 gene. The T340N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the T340N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties and this substitution occurs at a position that is not conserved across species. Finally, while a missense variant in the same codon (T340A) has been reported in the Human Gene Mutation Database in association with ARVC/D (Stenson et al., 2014), the pathogenicity of this variant has not been definitively determined.
Ambry Genetics RCV000622254 SCV000735966 uncertain significance Cardiovascular phenotype 2017-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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