Submissions for variant NM_001005242.3(PKP2):c.2168-11del

dbSNP: rs746936605

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	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 dysplasia 9	2014-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000624997	SCV003473305	benign	Arrhythmogenic right ventricular dysplasia 9	2023-12-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700227	SCV001925627	benign	not specified		no assertion criteria provided	clinical testing