ClinVar Miner

Submissions for variant NM_001005242.2(PKP2):c.672_673CT[1] (p.Ser225fs) (rs794729123)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183784 SCV000236265 pathogenic not provided 2013-06-20 criteria provided, single submitter clinical testing c.674_675delCT: p.Ser225CysfsX2. The normal sequence with the bases that are deleted in braces is: GGCT{CT}GTTA. The c.674_675delCT mutation in PKP2 causes a shift in reading frame starting at codon Serine225, changing it to a Cysteine, and creates a premature Stop codon at position 2 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. The variant is found in PKP2 panel(s).

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