ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) (rs150821246)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720766 SCV000851648 uncertain significance Seizures 2017-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000187994 SCV000613882 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656017 SCV000588293 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GeneDx RCV000187994 SCV000241597 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000407786 SCV000471893 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285383 SCV000471894 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000285383 SCV000543213 uncertain significance Benign familial neonatal seizures 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 755 of the KCNQ3 protein (p.Asp755Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs150821246, ExAC 0.07%). This variant has been reported in a family with idiopathic generalized epilepsy, but it did not segregate with disease (PMID: 18625963). This variant has also been reported in an individual affected with Rolandic epilepsy as well as unaffected individuals (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 205988). An experimental study has shown that this missense change does not alter KCNQ3 function when expressed in Xenopus oocytes (PMID: 18625963). 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.

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