Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173274 | SCV000224371 | uncertain significance | not provided | 2015-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000799461 | SCV000939124 | uncertain significance | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 21 of the KCNMA1 protein (p.Ser21Asn). 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 variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 193224). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Gene |
RCV000173274 | SCV001769753 | uncertain significance | not provided | 2021-10-13 | 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 |
Ambry Genetics | RCV002517663 | SCV003752331 | uncertain significance | Inborn genetic diseases | 2021-06-18 | criteria provided, single submitter | clinical testing | The c.62G>A (p.S21N) alteration is located in exon 1 (coding exon 1) of the KCNMA1 gene. This alteration results from a G to A substitution at nucleotide position 62, causing the serine (S) at amino acid position 21 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |