ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)

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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 RCV002922417 SCV003262145 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067002 SCV004920205 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.1600G>A (p.A534T) alteration is located in exon 12 (coding exon 11) of the CARD11 gene. This alteration results from a G to A substitution at nucleotide position 1600, causing the alanine (A) at amino acid position 534 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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