Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000710150 | SCV000241525 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain.; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35104249) |
Athena Diagnostics Inc | RCV000710150 | SCV000613876 | uncertain significance | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001207533 | SCV001378890 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 586 of the KCNQ2 protein (p.Gln586Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with neonatal seizures (Invitae). ClinVar contains an entry for this variant (Variation ID: 205921). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects KCNQ2 function (PMID: 35104249). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000710150 | SCV001715328 | uncertain significance | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing | |
Channelopathy- |
RCV003315323 | SCV004015030 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |