Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639890 | SCV000761475 | uncertain significance | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change affects codon 991 of the KCNMA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNMA1 protein. This variant also falls at the last nucleotide of exon 24, which is part of the consensus splice site for this exon. This variant is present in population databases (rs201397661, gnomAD 0.01%). 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: 532941). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 |
RCV001549520 | SCV001769686 | uncertain significance | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533) |
Ce |
RCV001549520 | SCV004126842 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KCNMA1: BP4 |