ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2079_2092del (p.Pro694fs) (rs1554424044)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478766 SCV000569480 pathogenic not provided 2016-12-15 criteria provided, single submitter clinical testing The c.3099_3112del14 pathogenic variant in the KCNH2 gene has been reported previously in one individual who was referred for LQTS genetic testing; however, detailed clinical information was not provided (Kapplinger et al., 2009). The c.3099_3112del14 variant was not observed in 2,600 published control alleles (Kapplinger et al., 2009) or in the Exome Aggregation Consortium, indicating it is not a common benign variant. This variant causes a shift in reading frame starting at codon Proline 1034, changing it to an Glycine, and creating a premature stop codon at position 80 of the new reading frame, denoted p.Pro1034GlyfsX80. This pathogenic variant is expected to result in a prematurely truncated protein product, as the last 126 amino acid residues are replaced with 79 incorrect amino acid residues. Other frameshift variants in the KCNH2 gene have been reported in the Human Gene Mutation Database in association with LQTS, including several that are downstream of this variant (Stenson et al., 2014).Therefore, the presence of the c.3099_3112del14 pathogenic variant in the KCNH2 gene is consistent with a diagnosis of LQTS.

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