Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234060 | SCV000290702 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670321 | SCV000795160 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365214 | SCV002665267 | uncertain significance | Cardiovascular phenotype | 2022-08-27 | criteria provided, single submitter | clinical testing | The p.G219S variant (also known as c.655G>A), located in coding exon 1 of the FKRP gene, results from a G to A substitution at nucleotide position 655. The glycine at codon 219 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |