ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1444G>A (p.Val482Met) (rs121912506)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254122 SCV000320686 pathogenic Cardiovascular phenotype 2017-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Strong segregation with disease (lod >3 = >10 meioses),Deficient protein function in appropriate functional assay(s)
Invitae RCV000806677 SCV000946690 pathogenic Long QT syndrome 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 822 of the KCNH2 protein (p.Val822Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with long QT syndrome in several families (PMID: 8914737, 10086971) and has been observed in unrelated individuals with clinical features of long QT syndrome (PMID: 11854117, 10973849, 15851119, 15840476). ClinVar contains an entry for this variant (Variation ID: 14424). This variant has been reported to affect KCNH2 protein function (PMID: 9694858, 23303164, 11278781). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015505 SCV000035770 pathogenic Long QT syndrome 2 1996-10-02 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058125 SCV000089645 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:8914737;PMID:10086971;PMID:11222472;PMID:11854117;PMID:15840476;PMID:16432067;PMID:19716085;PMID:9694858). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
GenomeConnect, ClinGen RCV000509399 SCV000607281 not provided Long QT syndrome 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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