ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1923_1924+11del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244180 SCV001417383 likely pathogenic Common variable immunodeficiency 8, with autoimmunity 2019-06-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 14 (c.1923_1924+11del) of the LRBA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with LRBA-related disease. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26768763, 26206937, 25468195). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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