ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) (rs1561254290)

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Total submissions: 1
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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 RCV000768379 SCV000898802 likely pathogenic Common variable immunodeficiency 8, with autoimmunity 2017-11-28 criteria provided, single submitter clinical testing LRBA NM_006726.4 exon 42 p.Arg2160fs (c.6480_6481del): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 2 nucleotides and creates a premature stop codon 18 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function (LOF) variants have been reported in association with disease with this gene, but there is insufficent evidence for LOF as an established disease mechanism. In summary, data on this variant is suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic.

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