ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) (rs770873593)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181321 SCV000233616 pathogenic not provided 2014-05-02 criteria provided, single submitter clinical testing p.Arg1400Stop (CGA>TGA): c.4198 C>T in exon 23 of the DSP gene (NM_004415.2). The R1400X mutation in the DSP gene has been reported in association with ARVC in one Chinese patient and was absent from 300 healthy controls matched for age, sex and ethnicity (Bao J et al., 2013). R1400X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the DSP gene have been reported in association with ARVC. In summary, R1400X in the DSP gene is interpreted as a disease-causing mutation. The variant is found in ARRHYTHMIA panel(s).
Invitae RCV000697999 SCV000826637 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1400*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770873593, ExAC 0.01%). This variant was reported in an individual with desmosomal cardiocutaneous syndromes and in a patient with arrhythmogenic right ventricular cardiomyopathy (PMID: 25516398, 24125834) ClinVar contains an entry for this variant (Variation ID: 199884). Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). For these reasons, this variant has been classified as Pathogenic.
Color RCV001176347 SCV001340311 pathogenic Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256837 SCV001433322 pathogenic Dilated cardiomyopathy 1A 2020-02-04 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000181321 SCV000809456 pathogenic not provided 2018-09-16 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.