ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2385del (p.Cys796fs) (rs794729118)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183777 SCV000236258 pathogenic not provided 2013-10-25 criteria provided, single submitter clinical testing This mutation is denoted c.2385delC at the cDNA level or at the protein level as p.Cys796ValfsX4. The normal sequence with the base that is deleted in braces is: GTCG{C}TGTT. The c.2385delC mutation in PKP2 causes a shift in reading frame starting at codon Cysteine796, changing it to a Valine, and creates a premature Stop codon at position 4 of the new reading frame. Although this mutation has not been reported previously to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. Other frameshift mutations in the PKP2 gene have been reported in association with ARVC. The variant is found in PKP2 panel(s).

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