ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.155dup (p.Ser53fs) (rs958681660)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521655 SCV000621347 likely pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing Although the c.155dupA likely pathogenic variant in the PKP2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon serine 53, changing it to a glutamic acid, and creating a premature stop codon at position 33 of the new reading frame, denoted p.Ser53GlufsX33. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Multiple other downstream frameshift variants in the PKP2 gene have been reported in Human Gene Mutation Database in association with ARVC (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.155dupA variant has not been observed in large population cohorts (Lek et al., 2016).
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197139 SCV001367775 likely pathogenic mitochondrial 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM5,PP2,PP3. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197670 SCV001368449 likely pathogenic Right ventricular cardiomyopathy 2020-02-07 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4,PM2,PM3. This variant was detected in homozygous state.

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