ClinVar Miner

Submissions for variant NM_012092.3(ICOS):c.401A>C (p.Gln134Pro) (rs367905290)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648106 SCV000769916 uncertain significance Common variable immunodeficiency 1 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 134 of the ICOS protein (p.Gln134Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs367905290, ExAC 0.03%). This variant has not been reported in the literature in individuals with ICOS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658897 SCV000780697 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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