Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698494 | SCV000827160 | uncertain significance | Charcot-Marie-Tooth disease, type 1C | 2019-05-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 140 of the LITAF protein (p.Ala140Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs754821950, ExAC 0.003%). This variant has not been reported in the literature in individuals with LITAF-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ce |
RCV000996211 | SCV001150805 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing |