ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1621del (p.Tyr541fs)

dbSNP: rs2130938733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768568 SCV001992355 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a well known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003586306 SCV004311200 pathogenic Benign neonatal seizures 2023-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr541Thrfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305361). For these reasons, this variant has been classified as Pathogenic.

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