ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8372G>A (p.Arg2791His)

gnomAD frequency: 0.00001  dbSNP: rs749339594
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Total submissions: 4
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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 RCV000825919 SCV000967404 uncertain significance not specified 2018-04-06 criteria provided, single submitter clinical testing The p.Arg2791His variant in DSP has not been previously reported in individuals with clinical features of cardiomyopathy, but has been identified in 2/246228 ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; dbSNP rs74939594). Computational prediction tools and conservation analy sis do not provide strong support for or against an impact to the protein. In su mmary, the clinical significance of the p.Arg2791His variant is uncertain. ACMG/ AMP Criteria applied: PM2
Ambry Genetics RCV002434035 SCV002678736 uncertain significance Cardiovascular phenotype 2022-07-06 criteria provided, single submitter clinical testing The p.R2791H variant (also known as c.8372G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 8372. The arginine at codon 2791 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV003532286 SCV004363535 uncertain significance Cardiomyopathy 2023-04-27 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 2791 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 2/251428 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768562 SCV004567912 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-01 criteria provided, single submitter clinical testing

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