ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) (rs140852019)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172578 SCV000051417 likely benign not provided 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000373173 SCV000378450 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610495 SCV000710921 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing p.Asn696Ser in exon 10 of PKP2: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, bat, microbat, big brown bat, star nose mole, armadillo, and platypus have a Ser at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to th e protein. It has also been identified in 0.2% (44/24032) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs140852019).
Ambry Genetics RCV000619439 SCV000736640 uncertain significance Cardiovascular phenotype 2016-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000640033 SCV000761620 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-12-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769388 SCV000900780 uncertain significance Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.