ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)

gnomAD frequency: 0.00001  dbSNP: rs397516942
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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 RCV000038055 SCV000061721 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV002513495 SCV003509349 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038055 SCV004038136 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531933 SCV004363407 uncertain significance Cardiomyopathy 2023-05-10 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1579 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 3/250554 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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