ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.67-1G>C

dbSNP: rs778908435
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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 RCV000408582 SCV000281794 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091620 SCV001247767 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091620 SCV004293336 pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 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). 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: 236069). Disruption of this splice site has been observed in individual(s) with Stargardt disease (PMID: 28118664, 29925512). This variant is not present in population databases (gnomAD no frequency).

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