ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)

gnomAD frequency: 0.00004  dbSNP: rs374263890
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208250 SCV000263872 uncertain significance Ventricular fibrillation 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000465636 SCV000543265 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-25 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852571 SCV000995272 uncertain significance Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000852571 SCV001734468 uncertain significance Cardiomyopathy 2020-09-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1045 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 12/282294 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.
Fulgent Genetics, Fulgent Genetics RCV002485358 SCV002782780 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-10-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437009 SCV004163049 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing

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