ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.685_690del (p.Gln229_Gln230del) (rs397508073)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229325 SCV001401767 uncertain significance Long QT syndrome 2019-09-13 criteria provided, single submitter clinical testing This variant, c.1066_1071delCAGCAG, results in the deletion of 2 amino acid(s) of the KCNQ1 protein (p.Gln356_Gln357del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with long QT syndrome (LQTS) in a family and has also been reported in an independent individual that was referred for LQTS genetic testing (PMID: 14731347, 23098067). ClinVar contains an entry for this variant (Variation ID: 52947). This variant identified in the KCNQ1 gene is located in the cytoplasmic C-terminal region of the resulting protein (PMID: 19841300, 25348405). For more information about the location of this variant, please visit www.invitae.com/KCNQ1-topology. It is unclear how this variant impacts the function of this protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577802 SCV000679015 not provided Long QT syndrome, LQT1 subtype no assertion provided literature only

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