ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.1408C>T (p.Arg470Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004999141 SCV005437131 likely pathogenic Intellectual disability, autosomal dominant 46 2021-02-12 criteria provided, single submitter clinical testing This variant has been confirmed to occur de novo in an individual who has clinical features associated with this gene. This variant is expected to result in the loss of a functional protein. Currently only missense variants have been reported in this gene in the published literature (PMID: 28669405, 30904718, 30525188). Therefore there is limited information on the potential impact of loss-of-function variants in this gene. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity.

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