Submissions for variant NM_001005242.3(PKP2):c.336+17T>G

gnomAD frequency: 0.00016  dbSNP: rs185681814

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	RCV000030363	SCV000053030	uncertain	Cardiomyopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
GeneDx	RCV000497991	SCV000589349	uncertain significance	not provided	2018-05-10	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the PKP2 gene. The c.336+17 T>G variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant is observed in 6/11,536 alleles (0.05%) from individuals of Latino ancestry in large population cohorts (Lek et al., 2016). Other splice site variants in the PKP2 gene have been reported in the Human Gene Mutation Database in association with ARVD/C (Stenson et al., 2014). The c.336+17 T>G variant is predicted to create a strong downstream cryptic splice donor site in intron 2 and may cause abnormal gene splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Fulgent Genetics, Fulgent Genetics	RCV000763843	SCV000894766	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000763843	SCV002412843	likely benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-19	criteria provided, single submitter	clinical testing