ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.178C>T (p.Arg60Trp)

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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 RCV003695141 SCV004431536 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 60 of the TNFRSF6B protein (p.Arg60Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. 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 disruptive. 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 RCV004371768 SCV004967925 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The c.178C>T (p.R60W) alteration is located in exon 1 (coding exon 1) of the TNFRSF6B gene. This alteration results from a C to T substitution at nucleotide position 178, causing the arginine (R) at amino acid position 60 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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