Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000306773 | SCV000335256 | uncertain significance | not provided | 2015-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797226 | SCV000936775 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-09-12 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 335 of the FKRP protein (p.Ala335Thr). This variant is present in population databases (rs776947530, gnomAD 0.06%). 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: 283265). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FKRP protein function. 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. |
Gene |
RCV000306773 | SCV001756222 | uncertain significance | not provided | 2023-03-23 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27439679) |
Athena Diagnostics Inc | RCV000306773 | SCV001880665 | uncertain significance | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002401982 | SCV002708993 | uncertain significance | Cardiovascular phenotype | 2021-09-10 | criteria provided, single submitter | clinical testing | The p.A335T variant (also known as c.1003G>A), located in coding exon 1 of the FKRP gene, results from a G to A substitution at nucleotide position 1003. The alanine at codon 335 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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, |
RCV002480010 | SCV002778321 | 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 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000306773 | SCV003832630 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833326 | SCV002091331 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2019-10-28 | no assertion criteria provided | clinical testing |