Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074799 | SCV001240396 | likely pathogenic | Retinal dystrophy | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001724241 | SCV001950051 | likely pathogenic | Isolated microphthalmia 5 | 2021-08-10 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous with NM_031433.4:c.665C>G. |
Invitae | RCV001724241 | SCV002229831 | pathogenic | Isolated microphthalmia 5 | 2023-07-21 | 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: 866632). This premature translational stop signal has been observed in individual(s) with clinical features of MFRP-related conditions (PMID: 28224992). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys285*) in the MFRP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MFRP are known to be pathogenic (PMID: 12140190, 15976030, 20361016). |