ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.172C>T (p.Arg58Ter)

dbSNP: rs121918314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748180 SCV004482815 pathogenic Immunodeficiency 37 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg58*) 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. ClinVar contains an entry for this variant (Variation ID: 6266). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006644 SCV000026827 pathogenic MALE GERM CELL TUMOR, SOMATIC 1999-07-01 no assertion criteria provided literature only

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