ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1862G>A (p.Ser621Asn) (rs199472948)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845307 SCV000987348 likely pathogenic Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing
Invitae RCV001208803 SCV001380210 uncertain significance Long QT syndrome 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 621 of the KCNH2 protein (p.Ser621Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with long QT syndrome (PMID: 14998624, 24606995, 11222472, Invitae). ClinVar contains an entry for this variant (Variation ID: 67299). This variant has been reported to affect KCNH2 protein function (PMID: 25417810). 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058017 SCV000089537 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:11222472;PMID:11468227;PMID:11668638;PMID:14998624). 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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