ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1760+2T>G

dbSNP: rs61751385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085420 SCV004292536 pathogenic not provided 2023-08-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 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 individual(s) with autosomal recessive retinitis pigmentosa and/or Stargardt disease (PMID: 12202497, 31814693). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS12+2T>G. ClinVar contains an entry for this variant (Variation ID: 99076). 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.
Dept Of Ophthalmology, Nagoya University RCV003888471 SCV004705888 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005031584 SCV005663518 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-01-27 criteria provided, single submitter clinical testing
Retina International RCV000085420 SCV000117557 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132587 SCV000172531 pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided not provided Converted during submission to Pathogenic.

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