ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.230G>A (p.Ser77Asn)

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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 RCV002617444 SCV002957223 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-03-14 criteria provided, single submitter clinical testing 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 asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs748063759, gnomAD 0.04%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 77 of the TNFRSF4 protein (p.Ser77Asn).

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