ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002368661 SCV002656538 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.K2091E variant (also known as c.6271A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 6271. The lysine at codon 2091 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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 RCV004005720 SCV004832957 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-04-10 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 2091 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 DSP-related disorders in the literature. This variant has not been identified 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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