ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2587+2T>C

dbSNP: rs1557783989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Core Molecular Diagnostic Lab, McGill University Health Centre RCV000722087 SCV000852060 pathogenic Severe early-childhood-onset retinal dystrophy 2018-11-13 criteria provided, single submitter clinical testing
Mendelics RCV000722087 SCV001135353 pathogenic Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868917 SCV002235627 pathogenic not provided 2020-11-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 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 (ExAC no frequency). This variant has been observed in individual(s) with retinal disease (PMID: 25474345, 32307445, Invitae). ClinVar contains an entry for this variant (Variation ID: 590903). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005027888 SCV005659535 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-04-19 criteria provided, single submitter clinical testing

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