Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173279 | SCV000224376 | likely benign | not specified | 2016-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000542633 | SCV000638703 | uncertain significance | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2024-01-23 | criteria provided, single submitter | clinical testing | This variant, c.162_173del, results in the deletion of 4 amino acid(s) of the KCNMA1 protein (p.Ser57_Ser60del), but otherwise preserves the integrity of the reading frame. 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: 193230). 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 |
RCV001709510 | SCV001938034 | benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917596 | SCV004742997 | likely benign | KCNMA1-related condition | 2020-02-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome |
RCV003483559 | SCV004228821 | not provided | Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 01-29-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |