ClinVar Miner

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

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Total submissions: 2
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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

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