ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1450del (p.Ala484fs) (rs1064793434)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478641 SCV000566108 pathogenic not provided 2015-04-03 criteria provided, single submitter clinical testing Although the c.2470delG variant in the KCNH2 gene has not been reported to our knowledge, this variant is expected to result in either an abnormal, truncated proteinproduct or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson P et al., 2014). Furthermore, the c.2470delG deletion wasnot observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.2470delG in the KCNH2 gene is interpreted as pathogenic.
Invitae RCV000807642 SCV000947707 pathogenic Long QT syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala824Profs*44) 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: 418787). 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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