ClinVar Miner

Submissions for variant NM_003809.3(TNFSF12):c.469C>T (p.Arg157Trp)

gnomAD frequency: 0.00002  dbSNP: rs763175605
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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 RCV001216686 SCV001388495 uncertain significance Common variable immunodeficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 157 of the TNFSF12 protein (p.Arg157Trp). This variant is present in population databases (rs763175605, gnomAD 0.01%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 945930). This variant has not been reported in the literature in individuals affected with TNFSF12-related conditions.

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