ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.855G>A (p.Trp285Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015053 SCV004829918 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-08-23 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 7 of the DSP gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of DSP function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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