Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171201 | SCV000221398 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Department Of Genetics, |
RCV000761498 | SCV000891617 | uncertain significance | Isolated microphthalmia 5 | 2017-12-30 | criteria provided, single submitter | curation | |
Invitae | RCV000761498 | SCV003294868 | pathogenic | Isolated microphthalmia 5 | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp249*) 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). This variant is present in population databases (rs786205471, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 32996714). ClinVar contains an entry for this variant (Variation ID: 191026). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV000761498 | SCV004805009 | pathogenic | Isolated microphthalmia 5 | 2024-03-17 | criteria provided, single submitter | research |