ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1883del (p.Gly628fs) (rs1064793855)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478962 SCV000567187 pathogenic not provided 2015-07-07 criteria provided, single submitter clinical testing Although the c.1883delG deletion in the KCNH2 gene has not been reported to our knowledge, thisvariant causes a shift in reading frame starting at codon Glycine 628, changing it to an Alanine, andcreating a premature stop codon at position 86 of the new reading frame, denoted p.Gly628AlafsX86. Thisdeletion is expected to result in either an abnormal, truncated protein product or loss of protein from thisallele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene havebeen reported in HGMD in association with LQTS (Stenson P et al., 2014). Furthermore, the c.1883delGvariant was not observed in approximately 6,500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.1883delG in the KCNH2 gene is interpreted as a pathogenic variant.

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