Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823403 | SCV000964262 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-07-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 324 of the FKRP protein (p.Glu324Asp). This variant is not present in population databases (gnomAD no frequency). 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: 665178). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV002381877 | SCV002695313 | uncertain significance | Cardiovascular phenotype | 2022-01-30 | criteria provided, single submitter | clinical testing | The p.E324D variant (also known as c.972G>C), located in coding exon 1 of the FKRP gene, results from a G to C substitution at nucleotide position 972. The glutamic acid at codon 324 is replaced by aspartic acid, an amino acid with highly 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. |
Natera, |
RCV001830821 | SCV002091327 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-07-28 | no assertion criteria provided | clinical testing |