ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5312+1G>A

gnomAD frequency: 0.00001  dbSNP: rs886044750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408509 SCV000281921 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073541 SCV001239089 pathogenic Retinal dystrophy 2019-05-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196916 SCV001367550 pathogenic Age related macular degeneration 2 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5. This variant was detected in homozygous state.
Invitae RCV001383600 SCV001582799 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). ClinVar contains an entry for this variant (Variation ID: 236128). Disruption of this splice site has been observed in individuals with Stargardt disease (PMID: 26593885, 28118664, 29925512). This variant is present in population databases (no rsID available, gnomAD 0.0008%). This sequence change affects a donor splice site in intron 37 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).
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267732 SCV001160832 pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research

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