ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)

gnomAD frequency: 0.00024  dbSNP: rs202084972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499874 SCV000594036 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000766990 SCV000619852 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000766990 SCV001502461 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000766990 SCV002170155 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 48 of the CEP135 protein (p.Arg48Trp). This variant is present in population databases (rs202084972, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CEP135-related conditions. ClinVar contains an entry for this variant (Variation ID: 434720). 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 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.

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