ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3050+1G>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817425 SCV005072160 pathogenic Retinal dystrophy 2013-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005101958 SCV005833920 pathogenic not provided 2024-09-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the ABCA4 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 ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of ABCA4-related conditions (PMID: 23982839, 26957898, 32531858, 35120629). 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.
CeGaT Center for Human Genetics Tuebingen RCV005101958 SCV005894422 pathogenic not provided 2025-01-01 criteria provided, single submitter clinical testing ABCA4: PM3:Strong, PVS1:Strong, PM2, PS1:Supporting

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