Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000083964 | SCV001387982 | uncertain significance | TNF receptor-associated periodic fever syndrome (TRAPS) | 2019-06-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to segregate with TNF receptor-associated periodic fever syndrome in a family (PMID: 18180277). This variant is also known as V173D in the literature. ClinVar contains an entry for this variant (Variation ID: 97711). This sequence change replaces valine with aspartic acid at codon 202 of the TNFRSF1A protein (p.Val202Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. |
| Unité médicale des maladies autoinflammatoires, |
RCV000083964 | SCV000116080 | not provided | TNF receptor-associated periodic fever syndrome (TRAPS) | no assertion provided | not provided |