Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000283493 | SCV000340388 | uncertain significance | not provided | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000820298 | SCV000961006 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 205 of the FKRP protein (p.Arg205Gly). This variant is present in population databases (rs753297636, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 286820). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002356388 | SCV002654442 | uncertain significance | Cardiovascular phenotype | 2023-06-22 | criteria provided, single submitter | clinical testing | The p.R205G variant (also known as c.613C>G), located in coding exon 1 of the FKRP gene, results from a C to G substitution at nucleotide position 613. The arginine at codon 205 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV002504004 | SCV002816852 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2021-09-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000283493 | SCV003832656 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000283493 | SCV004225413 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | PM2 |
Natera, |
RCV001275314 | SCV001460338 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2019-10-28 | no assertion criteria provided | clinical testing |