ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.386G>A (p.Arg129Gln)

gnomAD frequency: 0.00001  dbSNP: rs749155619
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171908 SCV000055161 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000171908 SCV000928030 uncertain significance not provided 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170911 SCV001333549 uncertain significance Cardiomyopathy 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517657 SCV003452250 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995664 SCV004823926 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 129 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 3/251396 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.
Breakthrough Genomics, Breakthrough Genomics RCV000171908 SCV005188786 uncertain significance not provided criteria provided, single submitter not provided

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