ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2060T>G (p.Leu687Arg) (rs794729113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183764 SCV000236245 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing p.Leu687Arg (CTG>CGG): c.2060 T>G in exon 10 of the PKP2 gene (NM_004572.3). The Leu687Arg variant in the PKP2 gene has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. Leu687Arg is a non-conservative amino acid substitution of a non-polar Leucine with a positively charged Arginine at a position that is conserved across species. A mutation in a nearby codon (Ser688Pro) has been reported in association with ARVC, further supporting the functional importance of this region of the protein. Additionally, in silico analysis predicts Leu687Arg is probably damaging to protein structure or function. The NHLBI ESP Exome Variant Server reports Leu687Arg was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common variant in these populations. However, control data from individuals of other ethnic backgrounds were not available to assess for a population-specific benign polymorphism. In summary, with the clinical and molecular information available at this time, we cannot determine whether the Leu687Arg variant in the PKP2 gene is a disease-causing mutation or a benign variant. The variant is found in ARVC panel(s).

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