ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.44del (p.Leu15fs) (rs794728566)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182293 SCV000234596 pathogenic not provided 2012-07-26 criteria provided, single submitter clinical testing Although the c.425delTvariant in the KCNQ1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Leucine 142, changing it to an Arginine, and creating a premature stop codon at position 95 of the new reading frame, denoted p.Leu142ArgfsX95. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNQ1 gene have been reported in association with LQTS. In summary, c.425delT in the KCNQ1 gene is interpreted as a pathogenic variant.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709730 SCV000839968 likely pathogenic Long QT syndrome 1 2018-03-27 criteria provided, single submitter clinical testing The c.425delT (p.Leu142Argfs*95) variant in the KCNQ1 gene is predicted to introduce a premature translation stop codon and has not been detected in the general population. The c.425delT (p.Leu142Argfs*95) variant in the KCNQ1 gene is classified as likely pathogenic.

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