ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1469G>A (p.Arg490His)

gnomAD frequency: 0.00004  dbSNP: rs747815091
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394321 SCV000464886 uncertain significance Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297782 SCV000464887 uncertain significance Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357218 SCV000464888 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262316 SCV000464889 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000477531 SCV000543232 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618799 SCV000734905 uncertain significance Cardiovascular phenotype 2023-06-13 criteria provided, single submitter clinical testing The p.R490H variant (also known as c.1469G>A), located in coding exon 12 of the DSP gene, results from a G to A substitution at nucleotide position 1469. The arginine at codon 490 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001184739 SCV001350785 uncertain significance Cardiomyopathy 2023-11-01 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 490 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 cardiovascular disorders in the literature. This variant has been identified in 9/251436 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.
All of Us Research Program, National Institutes of Health RCV003995892 SCV004815910 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 490 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 cardiovascular disorders in the literature. This variant has been identified in 9/251436 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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