Submissions for variant NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)

gnomAD frequency: 0.00470  dbSNP: rs62346982

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000544231	SCV000604130	benign	Combined immunodeficiency due to LRBA deficiency	2023-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544231	SCV000652633	benign	Combined immunodeficiency due to LRBA deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000508516	SCV000709547	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659001	SCV000780804	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LRBA: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000544231	SCV000782749	uncertain significance	Combined immunodeficiency due to LRBA deficiency	2017-11-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000508516	SCV002071117	likely benign	not specified	2020-03-02	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV000544231	SCV002556590	likely benign	Combined immunodeficiency due to LRBA deficiency	2020-08-18	criteria provided, single submitter	clinical testing	BS1, BP4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000544231	SCV003920156	likely benign	Combined immunodeficiency due to LRBA deficiency	2022-10-04	criteria provided, single submitter	clinical testing	This variant has been reported in the literature in 1 individual with panuveitis (Li 2021 PMID:32707200). This variant is present in the Genome Aggregation Database (Highest reported MAF 0.7% (543/67998) (https://gnomad.broadinstitute.org/variant/4-150321257-T-G?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID:439869). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003925503	SCV004740896	benign	LRBA-related disorder	2019-05-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).