ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu)

gnomAD frequency: 0.00001  dbSNP: rs754682495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543280 SCV000634041 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527747 SCV003587553 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1232C>T (p.P411L) alteration is located in exon 11 (coding exon 11) of the KCNQ2 gene. This alteration results from a C to T substitution at nucleotide position 1232, causing the proline (P) at amino acid position 411 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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