ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6014C>T (p.Ala2005Val)

gnomAD frequency: 0.00001  dbSNP: rs749925817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184286 SCV001350234 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 2005 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 been identified in 2/282542 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 RCV002356846 SCV002655146 uncertain significance Cardiovascular phenotype 2025-03-10 criteria provided, single submitter clinical testing The p.A2005V variant (also known as c.6014C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 6014. The alanine at codon 2005 is replaced by valine, 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 RCV004008451 SCV004819676 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 2005 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 been identified in 2/282542 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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