ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys)

gnomAD frequency: 0.00001  dbSNP: rs753653499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665065 SCV000789124 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV001868199 SCV002116603 uncertain significance not provided 2023-04-24 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. 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. ClinVar contains an entry for this variant (Variation ID: 550342). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. This variant is present in population databases (rs753653499, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 250 of the TNFRSF6B protein (p.Arg250Cys).
PreventionGenetics, part of Exact Sciences RCV003420171 SCV004117237 uncertain significance TNFRSF6B-related condition 2023-02-28 criteria provided, single submitter clinical testing The TNFRSF6B c.748C>T variant is predicted to result in the amino acid substitution p.Arg250Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-62329761-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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