ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2084_2087dup (p.Asp697fs) (rs794728469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182009 SCV000234312 pathogenic not provided 2013-03-20 criteria provided, single submitter clinical testing Although the c.3104_3107dupGGGG 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 1037, changing it to a Glycine, and creating a premature stop codon at position 83 of the new reading frame, denoted p.Asp1037GlyfsX83. 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.3104_3107dupGGGG in the KCNH2 gene is interpreted as a pathogenic variant.

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