Submissions for variant NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) (rs397514040)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000556858	SCV000641330	uncertain significance	Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8	2017-06-15	criteria provided, single submitter	clinical testing	This sequence change results in a premature translational stop signal in the DSP gene (p.Leu2031Glyfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 841 amino acids of the DSP protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in trans with another truncating variant in the last exon of DSP in a patient affected with acantholytic epidermolysis bullosa (PMID: 16175511). ClinVar contains an entry for this variant (Variation ID: 16844). In summary, this variant has uncertain impact on DSP function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM	RCV000018338	SCV000038617	pathogenic	Epidermolysis bullosa, lethal acantholytic	2005-10-01	no assertion criteria provided	literature only

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.