ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile)

dbSNP: rs121912513
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223759 SCV002502415 uncertain significance not provided 2021-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490375 SCV002779995 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003531903 SCV004353663 uncertain significance Long QT syndrome 2023-01-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects KCNH2 function (PMID: 24204727, 25417810). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 14440). This missense change has been observed in individual(s) with long QT syndrome (PMID: 11854117, 15051636). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 861 of the KCNH2 protein (p.Asn861Ile).
OMIM RCV000015522 SCV000035787 pathogenic Long QT syndrome 2 2004-04-20 no assertion criteria provided literature only
OMIM RCV000015523 SCV000035788 pathogenic Long QT syndrome 2/5, digenic 2004-04-20 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058141 SCV000089661 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:10973849;PMID:11854117;PMID:15051636). 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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