ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)

gnomAD frequency: 0.00005  dbSNP: rs751849031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620319 SCV000738252 uncertain significance Cardiovascular phenotype 2022-03-23 criteria provided, single submitter clinical testing The p.R1762Q variant (also known as c.5285G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 5285. The arginine at codon 1762 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other 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.
Invitae RCV001855272 SCV002276872 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-11 criteria provided, single submitter clinical testing
GeneDx RCV002225689 SCV002504661 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002499003 SCV002783252 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 2021-09-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532206 SCV004363425 uncertain significance Cardiomyopathy 2023-06-21 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1762 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 7/282006 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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