ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.33_34del (p.Ala13fs) (rs1064794494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483726 SCV000569321 likely pathogenic not provided 2016-02-11 criteria provided, single submitter clinical testing Although the c.33_34delAG variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Alanine 13, changing it to a Serine, and creating a premature stop codon at position 34 of the new reading frame, denoted p.Ala13SerfsX34. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Furthermore, the c.33_34delAG variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 7.0). Finally, while other frameshift variants in the KCNH2 gene have not been reported in this transcript in HGMD in association with LQTS, missense variants resulting in a loss of function have been reported in this transcript in association with LQTS (Stenson et al., 2014).

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