ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2092G>A (p.Val698Met) (rs199473544)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181911 SCV000234214 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing The V1038M variant in the KCNH2 gene has been published previously in one individual referred for LQT genetic testing and was absent from at least 2,600 reference alleles, however in vitro functional analysis and familial segregation studies were not performed (Kapplinger et al., 2009). The V1038M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000181911 SCV000543432 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Mendelics RCV000987996 SCV001137539 uncertain significance Long QT syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058199 SCV000089719 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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