ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.217C>T (p.Gln73Ter)

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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 RCV003007445 SCV003303133 pathogenic Immunodeficiency 37 2022-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln73*) in the BCL10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCL10 are known to be pathogenic (PMID: 25365219, 32008135). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCL10-related conditions. For these reasons, this variant has been classified as Pathogenic.

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