ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) (rs199601548)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183769 SCV000236250 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing Variant has been reported in multiple unrelated individuals with ARVC (van Tintelen et al., 2006; Lahtinen et al., 2008; Fidler et al., 2009; Bauce et al., 2010; Christensen et al., 2010; Xu et al., 2010; Rigato et al., 2013; Zorzi et al., 2015) as well as individuals with DCM, Brugada syndrome, or HCM (Garcia-Pavia et al., 2011; Cerrone et al., 2014; Sanchez et al., 2016) both in the published literature and in individuals referred for cardiac genetic testing at GeneDx. However, many of these individuals harbor additional variants in the PKP2 gene or other cardiac genes.; Published segregation studies demonstrate this variant has been observed in both affected and unaffected adult relatives (Lahtinen et al., 2008; Bauce et al., 2010) and failed to segregate with ARVC in at least one family (Christensen et al., 2010); Published functional studies demonstrate Q62K mutant protein disrupts proper desmosome assembly and leads to reduced sodium current (Hall et al., 2009; Cerrone et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19533476, 32880476, 30764827, 30847666, 31118017, 31737537, 26582918, 27535533, 30765282, 32466575, 27650965, 20129281, 27930701, 23651034, 25637381, 24618965, 21397041, 26718681, 18662195, 26138720, 21859740, 17521752, 24352520, 24070718, 20152563, 16567567, 23299917, 29456632, 19955750)
Invitae RCV000232789 SCV000288601 likely benign Arrhythmogenic right ventricular dysplasia 9 2020-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000232789 SCV000743464 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2017-07-19 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000232789 SCV000744717 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2017-05-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000232789 SCV000803625 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Arrhythmogenic right ventricular dysplasia 9, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PM2-Supporting => PM2 downgraded in strength to Supporting . PS3-Supporting => PS3 downgraded in strength to Supporting (PMID:19533476).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000183769 SCV001148703 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232789 SCV001266945 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2019-09-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170221 SCV001332781 uncertain significance Cardiomyopathy 2018-04-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV001170221 SCV001356370 likely benign Cardiomyopathy 2019-11-12 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148732 SCV000190467 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000232789 SCV000733172 uncertain significance Arrhythmogenic right ventricular dysplasia 9 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000183769 SCV001925007 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000183769 SCV001959480 uncertain significance not provided no assertion criteria provided clinical testing

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