Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543963 | SCV000639562 | uncertain significance | Charcot-Marie-Tooth disease, dominant intermediate C | 2017-06-12 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with cysteine at codon 249 of the YARS protein (p.Phe249Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a YARS-related disease. In summary, this variant has uncertain impact on YARS function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |