ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)

gnomAD frequency: 0.00004  dbSNP: rs376302558
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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 RCV000808140 SCV000948233 uncertain significance Immunodeficiency 37 2021-07-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BCL10 gene (p.Arg232*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the BCL10 protein. This variant is present in population databases (rs376302558, ExAC 0.03%). This variant has not been reported in the literature in individuals with BCL10-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478875 SCV002780672 uncertain significance Mesothelioma, malignant; Mucosa-associated lymphoma; Immunodeficiency 37; Lymphoma, non-Hodgkin, familial; Germ cell tumor of testis 2022-03-18 criteria provided, single submitter clinical testing

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