ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.154del (p.Cys52fs) (rs794728508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182068 SCV000234371 pathogenic Cardiac arrhythmia 2012-02-17 criteria provided, single submitter clinical testing The c.154delT mutation in the KCNH2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Cysteine 52, changing it to an Alanine, and creates a premature stop codon at position 8 of the new reading frame, denoted p.Cys52AlafsX8. This mutation is expected to result either in an abnormal, truncated protein product or loss of protein from this alleles through nonsense-mediated mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. The variant is found in LQT panel(s).
Invitae RCV000796540 SCV000936059 pathogenic Long QT syndrome 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys52Alafs*8) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 200809). Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 10973849, 19862833). For these reasons, this variant has been classified as Pathogenic.

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