ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile)

dbSNP: rs185511111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523501 SCV000616958 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV001065210 SCV001230160 uncertain significance Benign neonatal seizures 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 629 of the KCNQ3 protein (p.Val629Ile). This variant is present in population databases (rs185511111, gnomAD 0.03%). 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: 449145). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002527561 SCV003704186 likely benign Inborn genetic diseases 2021-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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