ClinVar Miner

Submissions for variant NM_005148.4(UNC119):c.353G>A (p.Arg118Gln)

gnomAD frequency: 0.00002  dbSNP: rs368608427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301732 SCV001490910 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 118 of the UNC119 protein (p.Arg118Gln). This variant is present in population databases (rs368608427, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with UNC119-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004944). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002486160 SCV002784183 uncertain significance Idiopathic CD4 lymphocytopenia 2022-05-23 criteria provided, single submitter clinical testing

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