ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2300-11del (rs746936605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589237 SCV000698470 benign not provided 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The PKP2 c.2300-11delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 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 468/80032 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0088062 (392/44514). This frequency is about 14 times the estimated maximal expected allele frequency of a pathogenic PKP2 variant (0.0006502), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624997 SCV000743448 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing

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