ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090635 SCV001246293 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001172396 SCV001512042 uncertain significance Leber congenital amaurosis 4 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 122 of the AIPL1 protein (p.Gly122Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201883601, ExAC 0.002%). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 20702822, 21474771, 29641573). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001172396 SCV001573602 likely pathogenic Leber congenital amaurosis 4 2021-04-08 criteria provided, single submitter research The AIPL1 c.364G>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PS3. Based on this evidence we have classified this variant as Likely Pathogenic.
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001172396 SCV001335457 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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