ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)

gnomAD frequency: 0.00001  dbSNP: rs987386495
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589711 SCV000698439 uncertain significance not specified 2024-03-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185991 SCV001352314 uncertain significance Cardiomyopathy 2023-09-20 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 1799 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 1/251262 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001309604 SCV001499109 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-07-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 496245). This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1799 of the DSP protein (p.Gln1799Arg).
Ambry Genetics RCV004024682 SCV003635238 uncertain significance Cardiovascular phenotype 2023-03-05 criteria provided, single submitter clinical testing The p.Q1799R variant (also known as c.5396A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 5396. The glutamine at codon 1799 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Revvity Omics, Revvity RCV003144389 SCV003829133 uncertain significance not provided 2020-04-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002435 SCV004834903 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 1799 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 1/251262 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.
GeneDx RCV003144389 SCV005626840 uncertain significance not provided 2024-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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