Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990091 | SCV001140884 | likely benign | Schinzel-Giedion syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549736 | SCV003449816 | uncertain significance | not provided | 2022-08-22 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 803487). This variant has not been reported in the literature in individuals affected with SETBP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1401 of the SETBP1 protein (p.Arg1401Gln). |
Prevention |
RCV003413775 | SCV004109094 | uncertain significance | SETBP1-related condition | 2023-05-22 | criteria provided, single submitter | clinical testing | The SETBP1 c.4202G>A variant is predicted to result in the amino acid substitution p.Arg1401Gln. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |