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	2019-12-20	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 C15"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658897	SCV000780697	uncertain significance	not provided	2018-03-01	criteria provided, single submitter	clinical testing

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