ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.336+17T>G (rs185681814)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763843 SCV000894766 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-10-31 criteria provided, single submitter clinical testing
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.
Integrated Genetics/Laboratory Corporation of America RCV000030363 SCV000053030 uncertain Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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