ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.305G>A (p.Gly102Asp) (rs199472708)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182099 SCV000234402 pathogenic not provided 2012-12-12 criteria provided, single submitter clinical testing p.Gly229Asp (GGC>GAC): c.686 G>A in exon 5 of the KCNQ1 gene (NM_000218.2). The Gly229Asp variant in the KCNQ1 gene has been reported in one individual with arrythmia and it was absent from 190 Caucasian control individuals (Ueda K et al., 2009). Additionally, the NHLBI ESP Exome Variant Server reports Gly229Asp was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Mutations in nearby residues (Ser225Leu, Ala226Val, Arg231Cys, Arg231His) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. In summary, Gly229Asp in the KCNQ1 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Invitae RCV001320480 SCV001511269 uncertain significance Long QT syndrome 2020-05-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 229 of the KCNQ1 protein (p.Gly229Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with atrial fibrillation and/or long QT syndrome (PMID: 30967788, 24096004, 19165230). ClinVar contains an entry for this variant (Variation ID: 53085). This variant has been reported to affect KCNQ1 protein function (PMID: 30967788, 24096004). 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 RCV000057732 SCV000089251 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:19165230). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
OMIM RCV000115009 SCV000148918 pathogenic Atrial fibrillation, familial, 3 2014-01-01 no assertion criteria provided literature only

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