ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.194G>A (p.Arg65His)

dbSNP: rs767897638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060936 SCV001225656 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-01-17 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. ClinVar contains an entry for this variant (Variation ID: 855630). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs767897638, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 65 of the TNFRSF4 protein (p.Arg65His).
Ambry Genetics RCV004678938 SCV005178702 uncertain significance not specified 2024-05-30 criteria provided, single submitter clinical testing The c.194G>A (p.R65H) alteration is located in exon 2 (coding exon 2) of the TNFRSF4 gene. This alteration results from a G to A substitution at nucleotide position 194, causing the arginine (R) at amino acid position 65 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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