ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) (rs767643821)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181316 SCV000233610 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing The R1269X variant in the DSP gene has been reported previously in one individual with a history of sustained ventricular tachycardia, syncope, septal thinning, hypokinesia, fibrofatty replacement and ICD implantation (Rasmussen et al., 2013). The R1269X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the DSP gene have been reported in HGMD in association with DSP-related disorders (Stenson et al., 2014). Furthermore, the R1269X pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, R1269X in the DSP gene is interpreted as a pathogenic variant.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709723 SCV000839953 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-09 criteria provided, single submitter clinical testing This c.3805C>T variant in the DSP gene is predicted to introduce a premature translation termination codon. It has been reported in three individuals in a family with arrhythmogenic right ventricular cardiomyopathy (ARVC; PMID 23137101). Functional analysis in endomyocardial biopsies of the proband indicates that the mutant transcript is likely to be degraded through nonsense-mediated decay and that DSP protein expression levels are decreased (PMID 23137101). This c.3805C>T, p.Arg1269* variant in the DSP gene is classified as likely pathogenic
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001028062 SCV001190838 likely pathogenic Dilated cardiomyopathy with woolly hair and keratoderma 2020-02-05 no assertion criteria provided clinical testing

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