ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.102dup (p.Glu35fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340737 SCV004047417 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 criteria provided, single submitter clinical testing The frame shift c.102dup (p.Glu35ArgfsTer51) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu35ArgfsTer51 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Glutamic Acid 35, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Glu35ArgfsTer51. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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