ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn)

gnomAD frequency: 0.00002  dbSNP: rs201996416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994465 SCV001148000 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045228 SCV001209066 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2022-02-05 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with epileptic encephalopathy (PMID: 29330545). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 518 of the KCNMA1 protein (p.Lys518Asn). ClinVar contains an entry for this variant (Variation ID: 806527). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on KCNMA1 function (PMID: 29330545). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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