ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)

dbSNP: rs371234425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641807 SCV000763457 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-04-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183056 SCV001348711 uncertain significance Cardiomyopathy 2022-12-12 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1002 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 12/282626 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 RCV003162891 SCV003867610 uncertain significance Cardiovascular phenotype 2023-03-01 criteria provided, single submitter clinical testing The p.R1002Q variant (also known as c.3005G>A), located in coding exon 22 of the DSP gene, results from a G to A substitution at nucleotide position 3005. The arginine at codon 1002 is replaced by glutamine, an amino acid with highly similar properties. This alteration was reported in an individual with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (Pugh TJ et al. Genet Med, 2014 Aug;16:601-8). This amino acid position is 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.
All of Us Research Program, National Institutes of Health RCV004003935 SCV004833134 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1002 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 12/282626 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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