Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000795892 | SCV000935372 | uncertain significance | Charcot-Marie-Tooth disease, type 1C | 2019-12-13 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 80 of the LITAF protein (p.Tyr80Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs539627278, ExAC 0.01%). This variant has been observed in one or more individuals who were not affected with Charcot_x0001_Marie_x0001_Tooth (CMT) 1C (PMID: 28211240). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
| Centre for Mendelian Genomics, |
RCV001198311 | SCV001369195 | uncertain significance | Hypomimic face; Hyporeflexia; Generalized hypotonia | 2019-08-12 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP3. This variant was detected in heterozygous state. |