ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)

dbSNP: rs1057518920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415085 SCV000492925 pathogenic Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve 2014-06-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532098 SCV004363337 pathogenic Cardiomyopathy 2022-06-14 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 18 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 cardiovascular 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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