ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys)

gnomAD frequency: 0.00008  dbSNP: rs570762078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664767 SCV000788777 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV001855430 SCV002176877 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs570762078, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 258 of the TNFRSF6B protein (p.Arg258Cys). 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: 550121). 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.

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