ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.26del (p.Val9fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003020917 SCV003301817 pathogenic Agammaglobulinemia 4, autosomal recessive 2022-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BLNK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val9Alafs*7) in the BLNK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLNK are known to be pathogenic (PMID: 10583958, 24582315).

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