ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.277-2A>G

gnomAD frequency: 0.00009  dbSNP: rs140808549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001172395 SCV001386815 pathogenic Leber congenital amaurosis 4 2024-01-07 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the AIPL1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs140808549, gnomAD 0.009%). Disruption of this splice site has been observed in individuals with clinical features of Leber congenital amaurosis (PMID: 10873396, 22412862, 29178642; Invitae). ClinVar contains an entry for this variant (Variation ID: 99798). Studies have shown that disruption of this splice site results in skipping of 3, but is expected to preserve the integrity of the reading-frame (PMID: 26650897). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000086221 SCV000118366 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001172395 SCV001335456 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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