ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del)

dbSNP: rs397508102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841640 SCV002053126 uncertain significance Cardiac arrhythmia 2021-05-07 criteria provided, single submitter clinical testing This variant is located in the KCNQ1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one family affected with long QT syndrome (PMID: 14731347, 27707468). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577521 SCV000678957 not provided Long QT syndrome 1 no assertion provided literature only

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