Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534683 | SCV000638219 | uncertain significance | Charcot-Marie-Tooth disease, type 1C | 2018-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 76 of the LITAF protein (p.Val76Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs371334679, ExAC 0.05%). This variant has been reported in an individual who underwent testing for Charcot-Marie-Tooth disease (PMID:25614874). ClinVar contains an entry for this variant (Variation ID: 464048). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV000585148 | SCV000692838 | uncertain significance | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing |