ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8365A>G (p.Ile2789Val)

dbSNP: rs397516965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038102 SCV000061768 uncertain significance not specified 2013-03-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile2789Val vari ant in DSP has not been reported in the literature nor previously identified by our laboratory. This variant has also not been identified in broad European Amer ican and African American populations by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS), though it may be present in other populations. I soleucine at position 2789 is poorly conserved in evolution and a valine (Val; t his variant) is present in several species, including mammals, suggesting that t his change may be tolerated. Computational analyses (biochemical amino acid prop erties, AlignGVGD, PolyPhen2, and SIFT) also suggest that the Ile2789Val variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. This variant is less likely disease causing but additio nal studies are needed to fully assess its clinical significance.
Color Diagnostics, LLC DBA Color Health RCV001177323 SCV001341517 uncertain significance Cardiomyopathy 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 2789 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.
All of Us Research Program, National Institutes of Health RCV003996357 SCV004822971 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-04-10 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 2789 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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