ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.506T>C (p.Phe169Ser) (rs199472738)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044347 SCV001208138 likely pathogenic Long QT syndrome 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 296 of the KCNQ1 protein (p.Phe296Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of long QT syndrome (LQTS) (PMID: 19808498, 17470695, 21350584, Invitae). ClinVar contains an entry for this variant (Variation ID: 67119). This variant has been reported to affect KCNQ1 protein function (PMID: 19808498). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057787 SCV000089306 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:17470695;PMID:17905336). 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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