ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.95T>C (p.Met32Thr)

gnomAD frequency: 0.00001  dbSNP: rs1236228710
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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 RCV001340659 SCV001534482 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-10-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 32 of the CARD11 protein (p.Met32Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.
Ambry Genetics RCV004601461 SCV005102719 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.95T>C (p.M32T) alteration is located in exon 3 (coding exon 2) of the CARD11 gene. This alteration results from a T to C substitution at nucleotide position 95, causing the methionine (M) at amino acid position 32 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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