ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)

gnomAD frequency: 0.00001  dbSNP: rs767003564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963741 SCV002254354 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011002 SCV004841387 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-23 criteria provided, single submitter clinical testing This missense variant replaces leucine with arginine at codon 1348 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 24125834, 37418234). At least one of these probands carried a pathogenic variant in a different gene that could explaim the observed disease. This variant has been identified in 4/250612 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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