ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2083del (p.Arg695fs) (rs794728468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182008 SCV000234311 pathogenic not provided 2013-01-22 criteria provided, single submitter clinical testing The c.3103delC mutation in the KCNH2 gene has been reported previously in one individual referred for LQTS testing, and was absent from more than 1500 reference alleles in this study (Tester D et al., 2005). In addition, c.3103delC was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This mutation causes a shift in reading frame starting at codon Arginine 1035, changing it to a Glycine, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Arg1035GlyfsX22. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS.
Invitae RCV000463445 SCV000543419 pathogenic Long QT syndrome 2018-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1035Glyfs*22) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in the literature in individuals affected with long QT syndrome (PMID: 15840476, 21063070). This variant is also known as P1034fs/21* in the literature. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000182008 SCV000700892 pathogenic not provided 2015-07-02 criteria provided, single submitter clinical testing

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