ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)

gnomAD frequency: 0.00021  dbSNP: rs118192254
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723967 SCV000226291 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000723967 SCV000241561 benign not provided 2021-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20437616, 16235065, 18698150, 17765802)
Illumina Laboratory Services, Illumina RCV000327599 SCV000471883 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368463 SCV000471884 likely benign Benign neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000368463 SCV000828546 likely benign Benign neonatal seizures 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313716 SCV000848750 benign Inborn genetic diseases 2018-05-30 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.
CeGaT Center for Human Genetics Tuebingen RCV000723967 SCV004184748 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing KCNQ3: BP4
GeneReviews RCV000678048 SCV000041086 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only Found in a typical family with BFNE who also had a KCNQ2 deletion/insertion (likely pathogenic); the KCNQ3 variant does not cosegregate with the disease.

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