ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)

gnomAD frequency: 0.00113  dbSNP: rs151286835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178607 SCV000230722 uncertain significance not provided 2015-04-20 criteria provided, single submitter clinical testing
Invitae RCV001079177 SCV001041156 likely benign Combined immunodeficiency due to LRBA deficiency 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178607 SCV001746805 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001079177 SCV002495826 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-05-04 criteria provided, single submitter clinical testing LRBA NM_006726.4 exon 46 p.Thr2307Asn (c.6920C>A):This variant has not been reported in the literature but is present in 0.7% (84/10610) of Finnish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/4-150436758-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:197550). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003927666 SCV004737550 likely benign LRBA-related condition 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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