ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192538 SCV001360749 likely pathogenic Cardiac arrhythmia 2019-09-23 criteria provided, single submitter clinical testing Variant summary: KCNH2 c.3100_3107delinsGGC (p.Pro1034GlyfsX83) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 145010 control chromosomes (gnomAD). c.3100_3107delinsGGC has been reported in the literature in one patient being tested for LQTS (Kapplinger_2009). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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