ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.826del (p.Ser276fs)

dbSNP: rs786204778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000169662 SCV000221192 likely pathogenic Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 2013-12-09 criteria provided, single submitter clinical testing The Ser276ProfsX13 variant in KCNQ1 has not been previously reported in the lite rature or in large population studies. This frameshift variant is predicted to a lter the protein?s amino acid sequence beginning at position 276 and lead to a p remature termination codon 13 amino acids downstream. This alteration is then pr edicted to lead to a truncated or absent protein. Complete loss of KCNQ1 functi on leads to Jervell and Lange-Nielsen syndrome (JLNS) in compound heterozygous a nd homozygous individuals while dominant-negative and loss-of-function variants in KCNQ1 have been shown to lead to Romano-Ward syndrome (RWS) in heterozygous i ndividuals. In summary, this variant is likely pathogenic, though additional stu dies are required to fully establish its clinical significance.

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