ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) (rs116355217)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000275233 SCV000340834 likely benign not specified 2016-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755561 SCV000604126 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing The p.Met467Val variant has been previous identified in a cohort of primary immunodeficiency patients undergoing whole exome sequencing (Maffucci 2016). The patient described in Maffucci et al. was diagnosed with sporadic common variable immunodeficiency, granulomatous disease, and autoimmune cytopenias and was compound heterozygous for variants (p.Ala2784Gly and p.Met467Val) in the LRBA gene. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.2 percent (identified on 585 out of 271,348 chromosomes including 1 homozygote). The methionine at position 467 is weakly conserved (considering 12 species) (Alamut v.2.9.0) and computational analyses of the effects of the p.Met467Val variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Met467Val variant with certainty.
Invitae RCV000650433 SCV000772278 benign Common variable immunodeficiency 8, with autoimmunity 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000650433 SCV000782643 uncertain significance Common variable immunodeficiency 8, with autoimmunity 2017-04-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000755561 SCV000892403 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000755561 SCV000927385 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing

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