ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) (rs118192252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723919 SCV000224956 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000723919 SCV000241612 uncertain significance not provided 2014-10-06 criteria provided, single submitter clinical testing p.Asn468Ser (AAT>AGT): c.1403 A>G in exon 10 of the KCNQ3 gene (NM_004519.2) The N468S variant has been reported in 3 siblings with benign familial infantile convulsions (BFIC) (Singh et al., 2013). However, functional studies show that the variant has no effect on the protein function and the authors conclude that it is a benign polymorphism (Singh et al., 2003). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N468S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species; however, Serine is observed at this position in one other species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
GeneReviews RCV000678047 SCV000041084 pathogenic Benign familial neonatal seizures 2 2010-04-27 no assertion criteria provided curation Converted during submission to Pathogenic.

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