ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer) (rs794728135)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181356 SCV000233657 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing The c.243_251delCTTGATGCG variant in the DSP gene has been reported in a Caucasian proband affected with ARVC and was shown to segregate with disease in multiple affected individuals spanning three generations within a single family (Singh et al., 2018). This variant results in a deletion of nine nucleotides, changing the cysteine residue at codon 81 to a premature stop codon, denoted p.Cys81Stop. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Several other downstream nonsense variants in the DSP gene have been reported in HGMD in association with ARVC (Stenson et al., 2014). Furthermore, the c.243_251delCTTGATGCG variant is not observed in large population cohorts (Lek et al., 2016). In summary, c.243_251delCTTGATGCG in the DSP gene is interpreted as a pathogenic variant.

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