ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.35C>G (p.Pro12Arg)

dbSNP: rs771462465
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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 RCV001048845 SCV001212870 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 12 of the TNFRSF4 protein (p.Pro12Arg). This variant is present in population databases (rs771462465, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 845726). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004031529 SCV003741279 uncertain significance not specified 2021-08-12 criteria provided, single submitter clinical testing The c.35C>G (p.P12R) alteration is located in exon 1 (coding exon 1) of the TNFRSF4 gene. This alteration results from a C to G substitution at nucleotide position 35, causing the proline (P) at amino acid position 12 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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