Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994521 | SCV001148111 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549875 | SCV003493191 | uncertain significance | FGFR2-related craniosynostosis | 2022-11-22 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 806578). This variant has not been reported in the literature in individuals affected with FGFR2-related conditions. This variant is present in population databases (rs762636391, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 140 of the FGFR2 protein (p.Ala140Thr). 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. |