ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)

dbSNP: rs374090050
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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 RCV000773340 SCV000907033 uncertain significance Cardiomyopathy 2023-06-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 2063 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 1/250498 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.
Fulgent Genetics, Fulgent Genetics RCV002501000 SCV002813496 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-11-11 criteria provided, single submitter clinical testing
Invitae RCV002534057 SCV003509702 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166042 SCV003855699 uncertain significance Cardiovascular phenotype 2022-11-01 criteria provided, single submitter clinical testing The p.R2063W variant (also known as c.6187C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 6187. The arginine at codon 2063 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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