ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.304T>C (p.Tyr102His)

dbSNP: rs767933010
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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 RCV001305651 SCV001494994 uncertain significance Immunodeficiency, common variable, 2 2022-02-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 102 of the TNFRSF13B protein (p.Tyr102His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1008333).

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