ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1264G>A (p.Glu422Lys) (rs397516914)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766876 SCV000233578 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing The E422K variant of uncertain significance in the DSP gene has been reported in on individual with ARVC who was evaluated for palpitations at age 15 and who's echocardiogram showed a dilated right ventricle with severe right ventricle dysfunction (Tan et al., 2010). This individual did not have a family history of ARVC; however segregation data to determine if this variant occurred de novo in this individual was not provided (Tan et al., 2010). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E422K 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. Additionally, this substitution occurs at a position that is conserved across species. Furthermore, in silico analysis predicts this variant may be damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014), indicating this region of the gene is not known to harbor disease-causing variants.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037986 SCV000061652 uncertain significance not specified 2008-07-14 no assertion criteria provided clinical testing

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