ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794614 SCV000934033 uncertain significance Common variable immunodeficiency 2 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 286 of the TNFRSF13B protein (p.Ala286Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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