ClinVar Miner

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

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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 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,; 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

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