ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.752T>C (p.Leu251Pro)

dbSNP: rs1780193930
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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 RCV001316845 SCV001507483 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2018-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CARD11-related disease. This sequence change replaces leucine with proline at codon 251 of the CARD11 protein (p.Leu251Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). Experimental studies have shown that this missense change disrupts normal protein function and causes in vitro aberrant B cell growth and differentiation (PMID: 23027925). 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.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285024 SCV002574855 likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency 2022-09-22 criteria provided, single submitter clinical testing

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