Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172408 | SCV001335466 | pathogenic | Fraser syndrome 1 | 2018-09-14 | criteria provided, single submitter | clinical testing | This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype |
Invitae | RCV003558741 | SCV004293188 | pathogenic | not provided | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1371*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of FRAS1-related conditions (PMID: 24551978). ClinVar contains an entry for this variant (Variation ID: 916639). For these reasons, this variant has been classified as Pathogenic. |