Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001245241 | SCV001418514 | uncertain significance | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 1156 of the KCNMA1 protein (p.Asn1156Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV003263890 | SCV003968067 | uncertain significance | Inborn genetic diseases | 2023-04-11 | criteria provided, single submitter | clinical testing | The c.3467A>G (p.N1156S) alteration is located in exon 27 (coding exon 27) of the KCNMA1 gene. This alteration results from a A to G substitution at nucleotide position 3467, causing the asparagine (N) at amino acid position 1156 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |