ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.231C>G (p.Ile77Met) (rs199473455)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000046098 SCV000074111 likely pathogenic Long QT syndrome 2015-08-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 204 of the KCNQ1 protein (p.Ile204Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases and has been reported in several long QT patients (PMID: 16414944, 19841298, 23158531). ClinVar contains an entry for this variant (Variation ID: 53079). In an experimental study, this variant was shown to affect potassium channel function (PMID: 20421371). Furthermore, another sequence change which also affects this codon (p.Ile204Phe) has been shown to reduce channel function (PMID: 20421371, 25444851). In summary, this is a rare missense change which has been reported in several affected individuals and has been shown to have some effect on protein function. For these reasons, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001507784 SCV001713551 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057722 SCV000089241 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:16414944;PMID:19716085;PMID:20421371). 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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