ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) (rs72553882)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185537 SCV000238415 pathogenic Common variable immunodeficiency 2 2014-07-17 no assertion criteria provided research This patient is a carrier of a heterozygous pathogenic variant in the TNFRSF13B gene associated with immunodeficiency 2 and immunoglobulin A deficiency 2. The TNFRSF13B variant (c.492C>G; p.Tyr164*) identified in this patient is a nonsense variant which results in a truncated protein, considered a pathogenic variant.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185538 SCV000238416 pathogenic Immunoglobulin A deficiency 2 2014-07-17 no assertion criteria provided research This patient is a carrier of a heterozygous pathogenic variant in the TNFRSF13B gene associated with immunodeficiency 2 and immunoglobulin A deficiency 2. The TNFRSF13B variant (c.492C>G; p.Tyr164*) identified in this patient is a nonsense variant which results in a truncated protein, considered a pathogenic variant.
Invitae RCV000185537 SCV000834915 pathogenic Common variable immunodeficiency 2 2018-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr164*) in the TNFRSF13B gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs72553882, ExAC 0.008%). This variant has been observed in individuals affected with common variable immunodeficiency disorder (CVID) (PMID: 27123465, 18981294). ClinVar contains an entry for this variant (Variation ID: 203368). Loss-of-function variants in TNFRSF13B are known to be pathogenic (PMID: 16007087, 27123465). For these reasons, this variant has been classified as Pathogenic.

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