ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)

gnomAD frequency: 0.00003  dbSNP: rs761544880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795619 SCV000935087 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 724 of the KCNQ2 protein (p.Pro724Leu). This variant is present in population databases (rs761544880, gnomAD 0.001%). This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 642202). 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 tolerated. 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.
Ambry Genetics RCV003380717 SCV004087296 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2171C>T (p.P724L) alteration is located in exon 17 (coding exon 17) of the KCNQ2 gene. This alteration results from a C to T substitution at nucleotide position 2171, causing the proline (P) at amino acid position 724 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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