ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.732del (p.Gly246fs) (rs794728424)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181962 SCV000234265 pathogenic not provided 2014-03-01 criteria provided, single submitter clinical testing Although the c.732delG mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Glycine 246, changing it to an Alanine, and creating a premature stop codon at position 114 of the new reading frame, denoted p.Gly246AlafsX114. 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.In summary, c.732delG in the KCNH2 gene is interpreted as a disease-causing mutation.

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