ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) (rs771974957)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181385 SCV000233687 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing The A2019S variant of uncertain significance in the DSP gene has been reported in one Spanish individual with ARVC (Alcalde et al., 2014); however, detailed clinical information and segregation data were not provided. Although, the A2019S variant has been identified in another individual referred for ARVC testing at GeneDx, that individual also harbored a frameshift variant in another ARVC-related gene. 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). The A2019S 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 is probably damaging to the protein structure/function. Nevertheless, the A2019S variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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