ClinVar Miner

Submissions for variant NM_004311.4(ARL3):c.353G>T (p.Cys118Phe)

gnomAD frequency: 0.00001  dbSNP: rs551366324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital RCV001293654 SCV001482302 pathogenic Retinitis pigmentosa criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001363129 SCV001559228 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 118 of the ARL3 protein (p.Cys118Phe). This variant is present in population databases (rs551366324, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of ARL3-related conditions (PMID: 33748123). ClinVar contains an entry for this variant (Variation ID: 997972). 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 tolerated. Experimental studies have shown that this missense change affects ARL3 function (PMID: 33748123). 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.
Dept Of Ophthalmology, Nagoya University RCV003887991 SCV004706951 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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