ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.784+1G>A

dbSNP: rs745704627
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987424 SCV001136714 pathogenic Retinitis pigmentosa 41 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047807 SCV001211788 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individuals with clinical features of autosomal recessive Stargardt disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 802056). 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.
Blueprint Genetics RCV001075553 SCV001241179 likely pathogenic Retinal dystrophy 2018-12-21 criteria provided, single submitter clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324543 SCV004030273 pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002466264 SCV002761249 pathogenic Stargardt disease 2022-12-13 no assertion criteria provided research

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