ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1526A>C (p.Glu509Ala)

gnomAD frequency: 0.00002  dbSNP: rs959219090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001964826 SCV002198313 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 509 of the KCNQ2 protein (p.Glu509Ala). This variant is present in population databases (no rsID available, gnomAD 0.01%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1428258). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions.
Ambry Genetics RCV004988944 SCV005608361 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.1526A>C (p.E509A) alteration is located in exon 14 (coding exon 14) of the KCNQ2 gene. This alteration results from a A to C substitution at nucleotide position 1526, causing the glutamic acid (E) at amino acid position 509 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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