ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.271+1G>A

gnomAD frequency: 0.00002  dbSNP: rs755272017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246358 SCV001419705 likely pathogenic Isolated microphthalmia 5 2022-10-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the MFRP gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFRP are known to be pathogenic (PMID: 12140190, 15976030, 20361016). This variant is present in population databases (rs755272017, gnomAD 0.009%). Disruption of this splice site has been observed in individual(s) with clinical features of MFRP-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 970729). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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