ClinVar Miner

Submissions for variant NM_003809.3(TNFSF12):c.266T>C (p.Val89Ala)

dbSNP: rs2070984742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051382 SCV001215534 uncertain significance Common variable immunodeficiency 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 89 of the TNFSF12 protein (p.Val89Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNFSF12-related conditions. 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 alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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