ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2301del (p.Glu769fs) (rs794729117)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183776 SCV000236257 pathogenic not provided 2012-06-21 criteria provided, single submitter clinical testing p.Glu769Lysfsx31: c.2301delC in exon 12 of the PKP2 gene (NM_004572.3). The normal sequence with the base that is deleted in braces is: TTGC{C}AAAG. Although the c.2301delC mutation in the PKP2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Glutamic acid 769, changing it to a Lysine, and creating a premature stop codon at position 31 of the new reading frame, denoted p.Glu769LysfsX31. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the PKP2 gene have been reported in association with ARVC. Therefore, c.2301delC in the PKP2 gene is interpreted as a disease-causing mutation. The variant is found in ARVC panel(s).

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