ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys)

dbSNP: rs2524620795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347245 SCV002650458 likely pathogenic Inborn genetic diseases 2018-08-29 criteria provided, single submitter clinical testing The p.F180C variant (also known as c.539T>G), located in coding exon 1 of the KCNA2 gene, results from a T to G substitution at nucleotide position 539. The phenylalanine at codon 180 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case of seizures and developmental delay (Ambry Internal Data). In addition, this variant is anticipated to result in a significant decrease in structural stability (Ambry Internal Analysis). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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