ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.147C>G (p.Cys49Trp) (rs794728410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181930 SCV000234233 pathogenic not provided 2013-06-19 criteria provided, single submitter clinical testing The C49W mutation in the KCNH2 gene has not been reported to our knowledge, a mutation affecting this same residue, C49Y, has been reported in association with LQTS (Napolitano C et al., 2005). Additionally, mutations in nearby residues (N45D, N45Y, N45S, G47V, G47D, G53R, G53S, G53V) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. C49W results in a non-conservative amino acid substitution of a polar Cystine with a non-polar Tryptophan at a position that is conserved across species. Furthermore, C49W was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in LQT panel(s).

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