ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.1031del (p.Lys344fs)

dbSNP: rs2133946382
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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 RCV001388635 SCV001589707 pathogenic Agammaglobulinemia 4, autosomal recessive 2020-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLNK are known to be pathogenic (PMID: 10583958, 24582315). This variant has not been reported in the literature in individuals with BLNK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys344Serfs*42) in the BLNK gene. It is expected to result in an absent or disrupted protein product.

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