ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)

gnomAD frequency: 0.02242  dbSNP: rs2303995
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117352 SCV000169993 benign not specified 2012-02-17 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 Laboratory Services, Illumina RCV000678046 SCV000471925 benign Seizures, benign familial neonatal, 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000326256 SCV000471926 benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000266513 SCV000555727 benign Benign neonatal seizures 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311520 SCV000846142 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneReviews RCV000678046 SCV000041083 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only
Genetic Services Laboratory, University of Chicago RCV000117352 SCV000151535 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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