ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)

gnomAD frequency: 0.00205  dbSNP: rs148385798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768012 SCV000898804 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-03-30 criteria provided, single submitter clinical testing LRBA NM_006726.4 exon 2 p.Ile65Thr (c.194T>C): This variant has not been reported in the literature but is present in 0.7% (169/24028) of African alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs148385798). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768012 SCV001107515 benign Combined immunodeficiency due to LRBA deficiency 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000768012 SCV001525230 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-07-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003918252 SCV004736361 likely benign LRBA-related disorder 2019-06-25 no assertion criteria provided 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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