Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001283829 | SCV002802681 | likely pathogenic | Fraser syndrome 1 | 2022-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002537928 | SCV003281412 | pathogenic | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2362*) in the FRAS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FRAS1 are known to be pathogenic (PMID: 12766769, 18671281). This variant is present in population databases (rs777438557, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FRAS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 993017). For these reasons, this variant has been classified as Pathogenic. |
Biochemical Molecular Genetic Laboratory, |
RCV001283829 | SCV001469246 | likely pathogenic | Fraser syndrome 1 | 2020-10-11 | no assertion criteria provided | clinical testing |