ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.245G>A (p.Trp82Ter)

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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 RCV005157947 SCV005785083 uncertain significance not provided 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp82*) in the TNFRSF6B 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 TNFRSF6B cause disease. This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. 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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