ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1060G>A (p.Gly354Arg)

dbSNP: rs796052680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523991 SCV000618099 pathogenic not provided 2021-10-13 criteria provided, single submitter clinical testing Reported as an inherited likely pathogenic variant in a neonate with a personal and family history of seizures (Cornet et al., 2021).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34153113)

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