Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000595411 | SCV000706092 | uncertain significance | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001854056 | SCV002159060 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 115 of the FKRP protein (p.Ser115Leu). This variant is present in population databases (rs752018916, gnomAD 0.02%). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 500235). 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. |
| Revvity Omics, |
RCV000595411 | SCV003832643 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003278929 | SCV004003025 | uncertain significance | Cardiovascular phenotype | 2023-05-31 | criteria provided, single submitter | clinical testing | The p.S115L variant (also known as c.344C>T), located in coding exon 1 of the FKRP gene, results from a C to T substitution at nucleotide position 344. The serine at codon 115 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in a muscular dystrophy cohort (Nallamilli BRR et al. Ann Clin Transl Neurol, 2018 Dec;5:1574-1587). This amino acid position is 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. |