ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1832T>G (p.Leu611Arg) (rs794729111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183758 SCV000236239 likely pathogenic not provided 2012-05-25 criteria provided, single submitter clinical testing p.Leu611Arg (CTT>CGT): c.1832 T>G in exon 9 of the PKP2 gene (NM_004572.3). The Leu611Arg variant in the PKP2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Leu611Arg results in a non-conservative amino acid substitution of a non-polar Leucine with a positively charged Arginine at a residue that is conserved across species. Mutations in nearby codons (Asn613Lys, Ser615Thr, Ser615Phe) have been reported in association with ARVC, supporting the functional importance of this region of the protein (Van der Zwaag P et al., 2009). The NHLBI ESP Exome Variant Server reports Leu611Arg was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, while the clinical significance of Leu611Arg in the PKP2 gene is currently unknown, the evidence suggests it is a good candidate for a disease-causing mutation. The variant is found in ARVC panel(s).

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