ClinVar Miner

Submissions for variant NM_012092.3(ICOS):c.58+1G>A (rs757598952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821966 SCV000962742 likely pathogenic Common variable immunodeficiency 1 2018-09-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the ICOS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs757598952, ExAC 0.002%). This variant has not been reported in the literature in individuals with ICOS-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ICOS are known to be pathogenic (PMID: 11343122, 12577056, 19380800). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027574 SCV001190144 likely pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research

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