ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1202_1209del (p.Leu401fs) (rs1555145521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520024 SCV000617288 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The c.1202_1209delTGCAGCTC variant in the PKP2 gene has been reported previously in a 42-year-old woman who met the task force criteria for ARVC (Christensen et al., 2010). The c.1202_1209delTGCAGCTC variant causes a frameshift starting with codon Leucine 401, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.L401PfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1202_1209delTGCAGCTC variant is not observed in large population cohorts (Lek et al., 2016).

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