ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)

dbSNP: rs142858967
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595977 SCV000707495 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763671 SCV000894551 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001065455 SCV001230413 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 154 of the KCNMA1 protein (p.Ala154Ser). This variant is present in population databases (rs142858967, gnomAD 0.006%). 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: 501214). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
CeGaT Center for Human Genetics Tuebingen RCV000595977 SCV002497045 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing KCNMA1: PP2, BP4
Ambry Genetics RCV003160047 SCV003869496 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.460G>T (p.A154S) alteration is located in exon 2 (coding exon 2) of the KCNMA1 gene. This alteration results from a G to T substitution at nucleotide position 460, causing the alanine (A) at amino acid position 154 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000595977 SCV004021515 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.