Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000029135 | SCV002240917 | pathogenic | Combined immunodeficiency due to LRBA deficiency | 2022-06-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 35456). This premature translational stop signal has been observed in individual(s) with LRBA deficiency (PMID: 22608502). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1683*) in the LRBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). |
OMIM | RCV000029135 | SCV000050585 | pathogenic | Combined immunodeficiency due to LRBA deficiency | 2012-06-08 | no assertion criteria provided | literature only |