ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)

gnomAD frequency: 0.00003  dbSNP: rs775181391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208261 SCV000263869 uncertain significance Cardiac arrest 2015-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617885 SCV000738168 uncertain significance Cardiovascular phenotype 2021-01-08 criteria provided, single submitter clinical testing The p.E683K variant (also known as c.2047G>A), located in coding exon 15 of the DSP gene, results from a G to A substitution at nucleotide position 2047. The glutamic acid at codon 683 is replaced by lysine, an amino acid with similar properties. 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.
Color Diagnostics, LLC DBA Color Health RCV001525885 SCV001736088 uncertain significance Cardiomyopathy 2022-12-21 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 683 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 4/251168 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 RCV001853298 SCV002197382 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-24 criteria provided, single submitter clinical testing

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