ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)

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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 RCV002937383 SCV003258530 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-08-03 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2049988). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1093 of the CARD11 protein (p.Pro1093Ser).

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