ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)

gnomAD frequency: 0.00006  dbSNP: rs535762713
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203129 SCV000257965 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620457 SCV000738138 uncertain significance Cardiovascular phenotype 2017-09-19 criteria provided, single submitter clinical testing The p.D1098E variant (also known as c.3294C>G), located in coding exon 23 of the DSP gene, results from a C to G substitution at nucleotide position 3294. The aspartic acid at codon 1098 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamic acid 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.
Color Diagnostics, LLC DBA Color Health RCV001183800 SCV001349627 uncertain significance Cardiomyopathy 2022-12-12 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 1098 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 7/282210 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.
Invitae RCV001222455 SCV001394553 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000998523 SCV002074022 uncertain significance not provided 2022-01-27 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

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