ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)

gnomAD frequency: 0.00001  dbSNP: rs730880081
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815259 SCV000955708 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001762338 SCV001999318 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 180325; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Color Diagnostics, LLC DBA Color Health RCV001804870 SCV002053518 uncertain significance Cardiomyopathy 2023-02-06 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 882 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 6/251244 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 RCV003162651 SCV003904669 uncertain significance Cardiovascular phenotype 2022-12-02 criteria provided, single submitter clinical testing The p.E882K variant (also known as c.2644G>A), located in coding exon 19 of the DSP gene, results from a G to A substitution at nucleotide position 2644. The glutamic acid at codon 882 is replaced by lysine, an amino acid with similar properties. This variant was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157191 SCV000206915 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-11-26 no assertion criteria provided clinical testing

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