ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.466C>G (p.Pro156Ala) (rs794729102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183726 SCV000236205 uncertain significance not provided 2012-07-26 criteria provided, single submitter clinical testing p.Pro156Ala (CCG>GCG): c.466 C>G in exon 3 of the PKP2 gene (NM_004572.3). The Pro156Ala variant in the PKP2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Pro156Ala is a semi-conservative amino acid substitution of a non-polar, sterically constrained Proline with a non-polar Alanine at a position that is conserved across mammals. In silico analysis predicts Pro156Ala is probably damaging to protein structure or function. Furthermore, the NHLBI ESP Exome Variant Server reports Pro156Ala was not observed in over 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common variant in these populations. In summary, with the clinical and molecular information available at this time, we cannot determine whether Pro156Ala in the PKP2 gene is a disease-causing mutation or a benign variant. The variant is found in ARVC panel(s).
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197087 SCV001367723 uncertain significance Sudden cardiac death 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PP2,PP3. This variant was detected in heterozygous state.

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