ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)

dbSNP: rs775364986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001172386 SCV002238727 pathogenic Leber congenital amaurosis 4 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 71 of the AIPL1 protein (p.Val71Phe). This variant is present in population databases (rs775364986, gnomAD 0.0009%). This missense change has been observed in individuals with Leber congenital amaurosis (PMID: 15024725, 20079931, 20702822, 26306921). ClinVar contains an entry for this variant (Variation ID: 812219). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AIPL1 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects AIPL1 function (PMID: 27268253, 28739921, 28973376). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002865 SCV001160893 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001172386 SCV001335444 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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