ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6448+17A>G

gnomAD frequency: 0.00274  dbSNP: rs183652080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284819 SCV001470858 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-10-03 criteria provided, single submitter clinical testing The LRBA c.6481+17A>G variant (rs183652080), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.27% (765/ 278716 alleles, including 3 homozygotes) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. However, without functional studies the effect on splicing is unknown. While the population frequency suggests that this variant may be a benign polymorphism, without clinical and functional data, the significance of the c.6481+17A>G variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001284819 SCV001729696 benign Combined immunodeficiency due to LRBA deficiency 2024-01-31 criteria provided, single submitter clinical testing

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