ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.824G>C (p.Arg275Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002995254 SCV003295286 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 275 of the TNFRSF6B protein (p.Arg275Pro). This variant is present in population databases (rs566823245, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. ClinVar contains an entry for this variant (Variation ID: 2079271). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004065216 SCV003759571 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing The c.824G>C (p.R275P) alteration is located in exon 3 (coding exon 3) of the TNFRSF6B gene. This alteration results from a G to C substitution at nucleotide position 824, causing the arginine (R) at amino acid position 275 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002995254 SCV004238068 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing

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