ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)

gnomAD frequency: 0.00001  dbSNP: rs751861897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219248 SCV001391175 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032354 SCV004920215 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.3130G>T (p.A1044S) alteration is located in exon 23 (coding exon 22) of the CARD11 gene. This alteration results from a G to T substitution at nucleotide position 3130, causing the alanine (A) at amino acid position 1044 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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