Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488105 | SCV000575244 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001476355 | SCV001680563 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-05-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356797 | SCV002652796 | likely benign | Inborn genetic diseases | 2018-07-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003419819 | SCV004107800 | uncertain significance | SCN1A-related condition | 2022-09-23 | criteria provided, single submitter | clinical testing | The SCN1A c.5877G>T variant is predicted to result in the amino acid substitution p.Met1959Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-166847908-C-A), which is more common than expected for a disease-causing variant in SCN1A. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. |