ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.465G>T (p.Gln155His)

dbSNP: rs758001091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003485643 SCV004238422 likely pathogenic Leber congenital amaurosis 4 2023-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003485643 SCV004296479 pathogenic Leber congenital amaurosis 4 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 155 of the AIPL1 protein (p.Gln155His). RNA analysis indicates that this missense change induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs758001091, gnomAD 0.01%). This missense change has been observed in individual(s) with AIPL1-related conditions (PMID: 30718709). It has also been observed to segregate with disease in related individuals. This variant is also known as p.(H93_Q155del). ClinVar contains an entry for this variant (Variation ID: 635994). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 26650897). For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004794454 SCV005415449 likely pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787530 SCV000926498 uncertain significance Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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