ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.301A>G (p.Lys101Glu) (rs199472856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182053 SCV000234356 likely pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing The Lys101Glu variant in the KCNH2 gene has been reported previously in association with LQTS. Lys101Glu was identified in one individual with LQTS out of 40 probands tested and it was absent from 100 controls. Additionally, Lys101Glu was also identified in a 7-week old infant with sudden infant death syndrome (SIDS). Lys101Glu results in a non-conservative amino acid substitution of a positively charged Lysine residue with a negatively charged Glutamic acid residue. Variants in nearby codons (Tyr99Ser, Arg100Gln, Arg100Gly, Arg100Trp, Asp102Ala, Asp102Val) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Lys101Glu was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Therefore, the presence of the Lys101Glu variant in the KCNH2 gene is consistent with an autosomal dominant form of LQTS.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058190 SCV000089710 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:11468227;PMID:11668638;PMID:15670565). 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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