ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1171-10T>C (rs200122872)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038152 SCV000061818 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing c.1171-10T>C in intron 4 of PKP2: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the sp lice consensus and is therefore unlikely to impact splicing. It has been identif ied in 41/65854 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200122872).
GeneDx RCV000038152 SCV000171013 benign not specified 2014-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000364467 SCV000378461 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000586901 SCV000557314 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586901 SCV000698460 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The PKP2 c.1171-10T>C variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 129/245080 control chromosomes, predominantly observed in the European (Non-Finnish) cohort at a frequency of 0.000969 (122/125874). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic PKP2 variant (0.0006502). Therefore, suggesting this is likely a benign polymorphism found primarily population(s) of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000471728 SCV000743456 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000471728 SCV000744703 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-05-31 criteria provided, single submitter clinical testing
Color RCV000776186 SCV000911313 likely benign Cardiomyopathy 2018-09-29 criteria provided, single submitter clinical testing

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