ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.421G>A (p.Val141Ile)

gnomAD frequency: 0.00001  dbSNP: rs767730041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225073 SCV001397308 uncertain significance Benign neonatal seizures 2020-12-03 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 141 of the KCNQ3 protein (p.Val141Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004762001 SCV005372334 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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