Total submissions: 3
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). |
Prevention |
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. |