ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp)

gnomAD frequency: 0.00001  dbSNP: rs139370249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896344 SCV002162697 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-09-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs139370249, gnomAD 0.003%). 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: 1392675). This missense change has been observed in individual(s) with clinical features of KCNMA1-related conditions (PMID: 29738522, 29933521). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1177 of the KCNMA1 protein (p.Arg1177Trp).

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