Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042009 | SCV001205667 | uncertain significance | Carney complex, type 1 | 2019-12-11 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKAR1A-related conditions. This sequence change replaces alanine with threonine at codon 131 of the PRKAR1A protein (p.Ala131Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |