Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172416 | SCV001335475 | 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 |
Fulgent Genetics, |
RCV001172416 | SCV002810886 | pathogenic | Fraser syndrome 1 | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003769845 | SCV004629395 | pathogenic | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 916647). This premature translational stop signal has been observed in individual(s) with Fraser syndrome (PMID: 31999076). This variant is present in population databases (rs775259788, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg385*) 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). |