ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4159-1G>T

dbSNP: rs1750245794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250246 SCV001424450 likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency criteria provided, single submitter clinical testing
Invitae RCV002570417 SCV003313054 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2022-08-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 973589). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 25 of the LRBA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763).
Baylor Genetics RCV002570417 SCV003835306 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2022-07-21 criteria provided, single submitter clinical testing

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