ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)

dbSNP: rs1243587288
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Total submissions: 3
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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, University of Leipzig Medical Center 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001724241 SCV002229831 pathogenic Isolated microphthalmia 5 2025-01-23 criteria provided, single submitter clinical testing 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of MFRP-related conditions (PMID: 28224992). ClinVar contains an entry for this variant (Variation ID: 866632). 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.

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