ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.117G>T (p.Arg39Ser)

gnomAD frequency: 0.00001  dbSNP: rs748578019
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184794 SCV001350867 uncertain significance Cardiomyopathy 2022-11-09 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 39 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 2/186636 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001184794 SCV002043283 uncertain significance Cardiomyopathy 2021-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339468 SCV002635500 uncertain significance Cardiovascular phenotype 2024-08-07 criteria provided, single submitter clinical testing The p.R39S variant (also known as c.117G>T), located in coding exon 1 of the DSP gene, results from a G to T substitution at nucleotide position 117. The arginine at codon 39 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559873 SCV003243919 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226437 SCV003922934 uncertain significance not specified 2023-03-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008482 SCV004822022 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-06 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 39 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 2/186636 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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