ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.485G>T (p.Arg162Leu)

gnomAD frequency: 0.00003  dbSNP: rs397516944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177319 SCV001341513 uncertain significance Cardiomyopathy 2019-11-17 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 162 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 26743238). This variant has been identified in 4/282608 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.
Invitae RCV001852797 SCV002169329 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-11-24 criteria provided, single submitter clinical testing
GeneDx RCV003105782 SCV003761937 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038059 SCV000061725 uncertain significance not specified 2009-01-06 no assertion criteria provided clinical testing

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