ClinVar Miner

Submissions for variant NM_012092.4(ICOS):c.77C>A (p.Ala26Asp)

gnomAD frequency: 0.00002  dbSNP: rs761695473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043605 SCV001207360 uncertain significance Immunodeficiency, common variable, 1 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 26 of the ICOS protein (p.Ala26Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs761695473, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ICOS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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