Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429859 | SCV000529935 | likely benign | not specified | 2016-07-18 | 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 | RCV000636549 | SCV000757988 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000768325 | SCV000898995 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2021-03-30 | criteria provided, single submitter | clinical testing | SPTAN1 NM_001130438.2 exon 38 p.Gln1595= (c.4785G>A): This variant has not been reported in the literature and is present in 0.05% (11/19946) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/9-131374004-G-A). This variant is present in ClinVar (Variation ID:387800). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Genome- |
RCV000768325 | SCV002056590 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339063 | SCV002640089 | likely benign | Inborn genetic diseases | 2017-07-12 | 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. |