ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1450C>T (p.Pro484Ser)

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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 RCV003079543 SCV003469276 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004783008 SCV005394045 uncertain significance not specified 2024-09-04 criteria provided, single submitter clinical testing Variant summary: CARD11 c.1450C>T (p.Pro484Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251324 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1450C>T in individuals affected with Immunodeficiency 11 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2157277). Based on the evidence outlined above, the variant was classified as uncertain significance.

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