ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) (rs367890569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603791 SCV000711085 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing The p.Gly228Cys variant in KCNQ4 has not been previously reported in individuals with hearing loss, but has been identified in 1/51990 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 67890569). Although this variant has been seen in the general population, its fr equency is not high enough to rule out a pathogenic role. Computational predicti on tools and conservation analysis suggest that the p.Gly228Cys variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Gly228Cys variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000763909 SCV000894850 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2018-10-31 criteria provided, single submitter clinical testing

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