ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.55C>A (p.Arg19Ser)

gnomAD frequency: 0.00003  dbSNP: rs777340009
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794965 SCV000934403 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000841345 SCV000983307 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001805863 SCV002051902 uncertain significance Cardiomyopathy 2021-02-17 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 19 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/257152 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.
Ambry Genetics RCV003166125 SCV003867601 uncertain significance Cardiovascular phenotype 2023-02-21 criteria provided, single submitter clinical testing The p.R19S variant (also known as c.55C>A), located in coding exon 1 of the DSP gene, results from a C to A substitution at nucleotide position 55. The arginine at codon 19 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004001594 SCV004822020 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-30 criteria provided, single submitter clinical testing

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