ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002775336 SCV003022912 uncertain significance Leber congenital amaurosis 4 2022-03-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 19 of the AIPL1 protein (p.Gly19Arg). This variant is present in population databases (rs777056827, gnomAD 0.008%).

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