ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.721G>A (p.Asp241Asn)

gnomAD frequency: 0.00001  dbSNP: rs868293429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190968 SCV001358637 uncertain significance Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the spectrin repeat 3 in the plakin domain of the DSP protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/246134 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
GeneDx RCV001751347 SCV001987406 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing Identified in a sudden unexplained death cohort, however, patient-specific data were not provided (Lin et al., 2017); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 927578; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 29247119)
All of Us Research Program, National Institutes of Health RCV004807444 SCV005428800 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225305 SCV005868053 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-24 criteria provided, single submitter clinical testing

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