ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1599del (p.Lys533fs)

dbSNP: rs762289015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000206 SCV002233815 pathogenic Benign neonatal seizures 2021-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys533Asnfs*6) in the KCNQ3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ3 are known to be pathogenic (PMID: 29383681, 29852413). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNQ3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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