ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.1129-8G>A (rs200612600)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605561 SCV000728594 benign not specified 2017-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000605561 SCV000712619 uncertain significance not specified 2016-12-22 criteria provided, single submitter clinical testing The c.1129-8G>A variant in KCNQ1 has not been previously reported in individuals with hearing loss, but has been identified in 4/8562 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200612600). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predicti ve enough to rule out pathogenicity. In summary, the clinical significance of th e c.1129-8G>A variant is uncertain.

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