Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516565 | SCV000614240 | uncertain significance | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516565 | SCV001987757 | uncertain significance | not provided | 2019-05-24 | criteria provided, single submitter | clinical testing | Reported previously as a variant of uncertain clinical significance in an individual with CADASIL, however familial segregation information was not included. (Ungaro et al., 2009); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28902129, 19006080) |
Institute of Human Genetics, |
RCV002287419 | SCV002577795 | uncertain significance | See cases | 2021-12-16 | criteria provided, single submitter | clinical testing | ACMG categories: PM2,PM5,PP3,BP1 |
Invitae | RCV000516565 | SCV003491869 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409734 | SCV004115205 | uncertain significance | NOTCH3-related condition | 2022-11-04 | criteria provided, single submitter | clinical testing | The NOTCH3 c.1774C>A variant is predicted to result in the amino acid substitution p.Arg592Ser. This variant was reported in an individual with white matter lesions; however no additional functional or familial segregation studies support its pathogenicity (Ungaro et al 2009. PubMed ID: 19006080). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-15297982-G-T). Most CADASIL causing variants in the NOTCH3 gene result in the gain or loss of one or more cysteine residues in the extracellular domains of the protein. This variant located in an extracellular EGFr-like domain, but does not involve a cysteine residue. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Mayo Clinic Laboratories, |
RCV000516565 | SCV004224584 | uncertain significance | not provided | 2022-07-20 | criteria provided, single submitter | clinical testing | BS2 |