ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.1579-1G>C

gnomAD frequency: 0.00001  dbSNP: rs372513650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388263 SCV001589186 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the PROM1 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 PROM1 are known to be pathogenic (PMID: 17605048, 19718270, 24154662, 25474345). This variant is present in population databases (rs372513650, gnomAD 0.007%). Disruption of this splice site has been observed in individuals with clinical features of autosomal recessive PROM1-related retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 236527). 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.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225654 SCV000282637 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000225654 SCV000599174 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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