ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1034+1del

dbSNP: rs1555148011
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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 RCV000616047 SCV000712450 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2016-09-21 criteria provided, single submitter clinical testing The c.1034+1delG variant in PKP2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Heterozygous lo ss of function in PKP2 is an established disease mechanism in individuals with A RVC. In summary, although additional studies are required to fully establish its clinical significance, the c.1034+1delG variant is likely pathogenic.

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