ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1035-1G>A

dbSNP: rs1555147210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607669 SCV000731702 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-07-05 criteria provided, single submitter clinical testing The c.1035-1G>A variant in PKP2 has not been previously reported in individuals with ARVC or in large population studies. This variant occurs in the invariant r egion (+/-1,2) of the splice consensus sequence and is predicted to cause altere d splicing leading to an abnormal or absent protein. Splicing variants and other truncating variants in PKP2 are well-reported in individuals with ARVC (ARVD/C Genetic Variant Database, http://arvcdatabase.info; Human Gene Mutation Database ). In summary, although additional studies are required to fully establish its c linical significance, the c.1035-1G>A variant is likely pathogenic.

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