Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727643 | SCV000854932 | pathogenic | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000161915 | SCV000914491 | likely pathogenic | Isolated microphthalmia 5 | 2018-08-16 | criteria provided, single submitter | clinical testing | The MFRP c.491_492insT (p.Asn167GlnfsTer34) variant results in a frameshift and is predicted to result in premature termination of the protein. The p.Asn167GlnfsTer34 variant has been reported in two studies in which it is found in a compound heterozygous state in two sibling-pairs with hypermetropia or nanophthalmos and macular folds (Mukhopadhyay et al. 2010; Wassmann et al. 2014); however, the cDNA change in the Wassmann et al. (2014) study was c.498dupC. Control data are unavailable for this variant which is reported at a frequency of 0.0001668 in the African population of the Genome Aggregation Database. Based on the evidence and the potential impact of frameshift variants, the p.Asn167GlnfsTer34 variant is classified as likely pathogenic for isolated microphthalmia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000161915 | SCV001580691 | pathogenic | Isolated microphthalmia 5 | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn167Glnfs*34) 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 (rs730882143, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of MFRP-related conditions (PMID: 20361016). ClinVar contains an entry for this variant (Variation ID: 183046). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002498801 | SCV002808091 | pathogenic | Isolated microphthalmia 5; Nanophthalmos 2 | 2022-01-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000161915 | SCV000211945 | pathogenic | Isolated microphthalmia 5 | 2010-03-26 | no assertion criteria provided | literature only |