ClinVar Miner

Submissions for variant NM_012092.4(ICOS):c.584C>T (p.Thr195Ile)

gnomAD frequency: 0.00002  dbSNP: rs1044762811
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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 RCV001880381 SCV002122053 uncertain significance Immunodeficiency, common variable, 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 195 of the ICOS protein (p.Thr195Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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: "Possibly 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.
Ambry Genetics RCV004988796 SCV005598583 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.584C>T (p.T195I) alteration is located in exon 4 (coding exon 4) of the ICOS gene. This alteration results from a C to T substitution at nucleotide position 584, causing the threonine (T) at amino acid position 195 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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