Submissions for variant NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=)

gnomAD frequency: 0.00006  dbSNP: rs375379466

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768252	SCV000898778	uncertain significance	Seizures, benign familial neonatal, 2	2021-03-30	criteria provided, single submitter	clinical testing	KCNQ3 NM_004519.3 exon 15 p.Phe818= (c.2454C>T): This variant has not been reported in the literature but is present in 0.02% (5/24028) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-133141674-G-A). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061037	SCV002365566	likely benign	Benign neonatal seizures	2024-09-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004742635	SCV005358048	likely benign	KCNQ3-related disorder	2019-09-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).