ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala)

gnomAD frequency: 0.00001  dbSNP: rs201167566
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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 RCV001294265 SCV001483136 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-12-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 878 of the KCNMA1 protein (p.Thr878Ala). This variant is present in population databases (rs201167566, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 998412). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KCNMA1 protein function with a negative predictive value of 80%. 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 RCV004629534 SCV005126873 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The c.2632A>G (p.T878A) alteration is located in exon 22 (coding exon 22) of the KCNMA1 gene. This alteration results from a A to G substitution at nucleotide position 2632, causing the threonine (T) at amino acid position 878 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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