Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471856 | SCV000544442 | likely benign | Tuberous sclerosis 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001797088 | SCV002038796 | uncertain significance | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115, 27535533, 28191889) |
Ambry Genetics | RCV002436401 | SCV002749505 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-17 | 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 |
RCV003899905 | SCV004709868 | uncertain significance | TSC2-related condition | 2023-12-01 | criteria provided, single submitter | clinical testing | The TSC2 c.281C>T variant is predicted to result in the amino acid substitution p.Pro94Leu. This variant was identified in a large cohort study looking at neurodevelopmental disorder risk genes (Stessman et al. 2017. PubMed ID: 28191889). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |