ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.885del (p.Leu296fs) (rs794728429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181967 SCV000234270 pathogenic not provided 2014-01-27 criteria provided, single submitter clinical testing The c.885delG mutation in the KCNH2 gene has been reported in one family with LQTS using alternate nomenclature (del885*; V295fs/63) and was absent from 400 control chromosomes (Splawski et al., 2000). This mutation causes a shift in reading frame starting at codon Leucine296, changing it to a Cysteine, and creating a premature stop codon at position 64 of the new reading frame, denoted p.Leu296CysfsX64. 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.885delG in the KCNH2 gene is interpreted as a disease-causing mutation.

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