ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2075_2087dup (p.Asp697fs) (rs1554424060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627442 SCV000748441 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing Although the c.3095_3107dup13 pathogenic 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 an alanine, and creating a premature stop codon at position 86 of the new reading frame, denoted p.Asp1037AlafsX86. This pathogenic variant is expected to result in a truncated protein product where the last 123 amino acids are replaced by 85 incorrect ones. Other pathogenic frameshift variants including one at a similar position (c.3107dupG) have been reported in association with LQTS (Stenson et al., 2014). Furthermore, the c.3095_3107dup13 variant has not been observed in large population cohorts (Lek et al., 2016).

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