ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)

dbSNP: rs786205471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171201 SCV000221398 likely pathogenic not provided criteria provided, single submitter research
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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, King Faisal Specialist Hospital and Research Center RCV000761498 SCV004805009 pathogenic Isolated microphthalmia 5 2024-03-17 criteria provided, single submitter research

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