Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665706 | SCV000789870 | uncertain significance | Propionic acidemia | 2017-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665706 | SCV001403856 | uncertain significance | Propionic acidemia | 2021-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 207 of the PCCB protein (p.Ser207Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with propionic acidemia (PMID: 22033733; Invitae). ClinVar contains an entry for this variant (Variation ID: 550842). 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 disruptive. 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. |