ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)

gnomAD frequency: 0.00002  dbSNP: rs759698959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181380 SCV000233681 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#199934; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000697890 SCV000826523 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184990 SCV001351103 uncertain significance Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1267 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 cardiovascular disorders in the literature. This variant has been identified in 7/250804 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 RCV002354474 SCV002622269 uncertain significance Cardiovascular phenotype 2022-05-13 criteria provided, single submitter clinical testing The p.R1267Q variant (also known as c.3800G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 3800. The arginine at codon 1267 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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.
All of Us Research Program, National Institutes of Health RCV003996668 SCV004822078 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1267 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 cardiovascular disorders in the literature. This variant has been identified in 7/250804 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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