ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1707del (p.Pro570fs) (rs794728450)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181988 SCV000234291 pathogenic not provided 2016-10-12 criteria provided, single submitter clinical testing The c.2727delG pathogenic variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Proline 910, changing it to an Arginine, and creating a premature stop codon at position 64 of the new reading frame, denoted p.Pro910ArgfsX64. This pathogenic variant 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 variant in the KCNH2 gene have been reported in association with LQTS.

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