ClinVar Miner

Submissions for variant NM_003809.3(TNFSF12):c.310C>T (p.Arg104Ter)

gnomAD frequency: 0.00001  dbSNP: rs1432703775
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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 RCV002001041 SCV002269452 uncertain significance Common variable immunodeficiency 2024-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg104*) in the TNFSF12 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNFSF12 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TNFSF12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1485849). 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.

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