ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) (rs879254353)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000235256 SCV000294319 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-01-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the DSP mRNA at codon 2724 (p.Gln2724*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated DSP protein. While this particular variant has not been reported in the literature, truncating variants in the last exon of genes are not necessarily deleterious (PMID: 24274751), and the clinical significance of this variant is uncertain at this time. In summary, this is a novel truncating variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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