Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000416180 | SCV000292582 | uncertain significance | not provided | 2017-06-22 | criteria provided, single submitter | clinical testing | The R27P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor with any significant frequency in the 1000 Genomes Project. The R27P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant |
| Ce |
RCV000416180 | SCV000493283 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001086814 | SCV000561799 | likely benign | Charcot-Marie-Tooth disease axonal type 2F | 2020-12-01 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000416180 | SCV000885571 | uncertain significance | not provided | 2018-03-09 | criteria provided, single submitter | clinical testing | The p.Arg27Pro variant (rs367662394) variant was reported in one patient in a CMT cohort referred to for genetic testing (DiVincenzo 2014). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.06 percent in the South Asian population (identified on 17 out of 30,440 chromosomes). The arginine at position 27 is highly conserved up to fruitfly considering 12 species and computational analyses of the p.Arg27Pro variant on protein structure and function indicate a deleterious effect (SIFT: damaging, PolyPhen-2:possibly damaging). Altogether, there is not enough evidence to classify the p.Arg27Pro variant with certainty. |
| Athena Diagnostics Inc | RCV000416180 | SCV001144220 | likely benign | not provided | 2019-01-04 | criteria provided, single submitter | clinical testing | |
| Molecular Genetics Laboratory, |
RCV001174176 | SCV001337302 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |