ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1513del (p.Ala505fs) (rs1064793832)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486763 SCV000567135 pathogenic not provided 2015-06-30 criteria provided, single submitter clinical testing Although the c.1513delG deletion in the KCNH2 gene has not been reported to our knowledge, this variantcauses a shift in reading frame starting at codon Alanine 505, changing it to a Proline, and creating apremature stop codon at position 16 of the new reading frame, denoted p.A505PfxX16. This deletion isexpected to result in either an abnormal, truncated protein product or loss of protein from this allele throughnonsense-mediated mRNA decay. Many other frameshift variants in the KCNH2 gene have been reported inHGMD in association with LQTS (Stenson P et al., 2014). Furthermore, the c.1513delG deletion was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.In summary, c.1513delG in the KCNH2 gene is interpreted as a pathogenic variant.

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