ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1239+1G>C

gnomAD frequency: 0.00001  dbSNP: rs765707028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408454 SCV000281817 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091616 SCV001247755 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091616 SCV001446888 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091616 SCV001583713 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 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 present in population databases (rs765707028, gnomAD 0.004%). Disruption of this splice site has been observed in individual(s) with Stargardt disease (PMID: 19265867, 28118664). ClinVar contains an entry for this variant (Variation ID: 236079). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28118664). For these reasons, this variant has been classified as Pathogenic.

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