ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1664_1665insCC (p.Asp556fs) (rs794728447)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181985 SCV000234288 pathogenic not provided 2013-12-20 criteria provided, single submitter clinical testing Although the c.2684_2685insCC variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Aspartic acid 896, changing it to an Arginine, and creating a premature stop codon at position 79 of the new reading frame, denoted p.Asp896ArgfsX79. 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. Other frameshift variants in the KCNH2 gene have been reported in association with LQTS.In summary, c.2684_2685insCC in the KCNH2 gene is interpreted as a pathogenic variant.

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