ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.1286G>T (p.Ser429Ile)

dbSNP: rs1135401957
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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 RCV001389801 SCV001591281 pathogenic not provided 2017-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change resulted in slowed activation kinetics with no effect on deactivation or channel expression (PMID: 28669405). This variant has been reported to be de novo in an individual affected with epileptic encephalopathy (PMID: 28669405). ClinVar contains an entry for this variant (Variation ID: 431387). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 448 of the KCNQ5 protein (p.Ser448Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine.
OMIM RCV000496964 SCV000588159 pathogenic Intellectual disability, autosomal dominant 46 2022-04-26 no assertion criteria provided literature only

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