ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.155T>C (p.Ile52Thr)

gnomAD frequency: 0.00001  dbSNP: rs1780507014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046096 SCV001209984 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-02-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 52 of the CARD11 protein (p.Ile52Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with congenital diarrhea (PMID: 30894704). This variant is not present in population databases (ExAC no frequency).

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