ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.828C>G (p.Asp276Glu)

gnomAD frequency: 0.00023  dbSNP: rs144383122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648137 SCV000769951 likely benign Immunodeficiency, common variable, 2 2024-11-29 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000648137 SCV005402344 uncertain significance Immunodeficiency, common variable, 2 2024-03-06 criteria provided, single submitter clinical testing The TNFRSF13B c.828C>G (p.Asp276Glu) missense change has a maximum subpopulation frequency of 0.08% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with TNFRSFR13B-related diseases. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV005286156 SCV005951206 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.828C>G (p.D276E) alteration is located in exon 5 (coding exon 5) of the TNFRSF13B gene. This alteration results from a C to G substitution at nucleotide position 828, causing the aspartic acid (D) at amino acid position 276 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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