ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)

gnomAD frequency: 0.00002  dbSNP: rs774638728
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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 RCV000535925 SCV000641294 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524033 SCV001733791 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 815 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 3/282716 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 RCV002456129 SCV002737277 uncertain significance Cardiovascular phenotype 2023-03-09 criteria provided, single submitter clinical testing The p.K815E variant (also known as c.2443A>G), located in coding exon 18 of the DSP gene, results from an A to G substitution at nucleotide position 2443. The lysine at codon 815 is replaced by glutamic acid, an amino acid with 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.
All of Us Research Program, National Institutes of Health RCV003999167 SCV004822058 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-06 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 815 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 3/282716 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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