Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172412 | SCV001335471 | 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 |
Revvity Omics, |
RCV001172412 | SCV002023755 | pathogenic | Fraser syndrome 1 | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558742 | SCV004293187 | pathogenic | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1244*) 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 (rs186964660, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Fraser syndrome (PMID: 18671281). ClinVar contains an entry for this variant (Variation ID: 916643). For these reasons, this variant has been classified as Pathogenic. |