ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1852TCC[6] (p.Ser622_His623insSer)

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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 RCV003799209 SCV004586301 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-10-09 criteria provided, single submitter clinical testing This variant, c.1864_1866dup, results in the insertion of 1 amino acid(s) of the CARD11 protein (p.Ser622dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. 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.

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