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.
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).

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