ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)

gnomAD frequency: 0.00465  dbSNP: rs151098394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531545 SCV000652615 benign Combined immunodeficiency due to LRBA deficiency 2024-01-25 criteria provided, single submitter clinical testing
New York Genome Center RCV000531545 SCV002097924 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-03-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222550 SCV002500390 uncertain significance not specified 2022-03-14 criteria provided, single submitter clinical testing Variant summary: LRBA c.2674G>A (p.Ala892Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0012 in 251260 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency does not allow conclusions about variant significance. c.2674G>A has been reported in the literature in an individual affected with Common Variable Immunodeficiency, without strong evidence for causality (Maffucci_2016). This report does not provide unequivocal conclusions about association of the variant with Common Variable Immunodeficiency 8, With Autoimmunity. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV003333996 SCV004042208 benign not provided 2023-09-01 criteria provided, single submitter clinical testing LRBA: BS1, BS2

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