ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.2228del (p.Ala743fs)

dbSNP: rs2150527930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001374618 SCV001571464 uncertain significance Intellectual disability, autosomal dominant 46 2021-01-01 criteria provided, single submitter research The KCNQ5 c.2228del (p.Ala743Glufs*62) is a frameshift variant located in the last exon of the gene and therefore may result in a truncated protein and escape from nonsense-mediated RNA decay (NMD). To our knowledge, this variant has not been previously reported in affected individuals in the literature. This variant is not present in human population databases such as gnomAD. This variant is classified as a variant of uncertain significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003234060 SCV003932294 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing PM2

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