Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000839547 | SCV000981449 | likely benign | not provided | 2018-04-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Invitae | RCV001858433 | SCV002219187 | uncertain significance | Benign neonatal seizures | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change affects codon 348 of the KCNQ3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNQ3 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. 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 KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 679840). 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. |
| Ce |
RCV000839547 | SCV004698495 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KCNQ3: BP4, BP7 |