Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680018 | SCV000807457 | likely pathogenic | Developmental and epileptic encephalopathy, 14 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV001266677 | SCV001444854 | likely pathogenic | Inborn genetic diseases | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002531409 | SCV003195254 | pathogenic | not provided | 2022-07-13 | 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 variant is associated with the following publications: (PMID: 28973083, 31618474) |
Prevention |
RCV003420198 | SCV004106226 | likely pathogenic | KCNT1-related disorder | 2023-09-06 | criteria provided, single submitter | clinical testing | The KCNT1 c.800T>C variant is predicted to result in the amino acid substitution p.Met267Thr. This variant was reported in heterozygous state in several individuals with early infantile epileptic encephalopathy and occurred de novo in at least two individuals (Table e3; Meng et al. 2017. PubMed ID: 28973083; Table S1 and S2, Burgess et al. 2019. PubMed ID: 31618474; Table S4, Bonardi et al. 2021. PubMed ID: 34114611). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic. |