ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3G>A (p.Met1Ile)

dbSNP: rs746425765
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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 RCV001246968 SCV001420363 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-11-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CARD11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the CARD11 mRNA. The next in-frame methionine is located at codon 8. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GenomeConnect - Invitae Patient Insights Network RCV001535546 SCV001749521 not provided Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-05-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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