ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)

dbSNP: rs199473441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206337 SCV000260753 pathogenic Long QT syndrome 2024-12-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the KCNQ1 mRNA. The next in-frame methionine is located at codon 159. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. Disruption of the initiator codon has been observed in individual(s) with Jervell-Lange Nielsen syndrome and/or long QT syndrome (PMID: 17470695, 21380488). ClinVar contains an entry for this variant (Variation ID: 220309). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects KCNQ1 function (PMID: 21380488). For these reasons, this variant has been classified as Pathogenic.

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