Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079435 | SCV000111314 | uncertain significance | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000634064 | SCV000755342 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 14 of the FKTN protein (p.Thr14Met). This variant is present in population databases (rs149033995, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 93520). 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 FKTN 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. |
Mayo Clinic Laboratories, |
RCV000079435 | SCV001716025 | uncertain significance | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504991 | SCV002815426 | uncertain significance | Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000079435 | SCV003832672 | uncertain significance | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004019537 | SCV004871083 | uncertain significance | Cardiovascular phenotype | 2024-04-29 | criteria provided, single submitter | clinical testing | The c.41C>T (p.T14M) alteration is located in exon 3 (coding exon 1) of the FKTN gene. This alteration results from a C to T substitution at nucleotide position 41, causing the threonine (T) at amino acid position 14 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV000079435 | SCV005195512 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000634064 | SCV002078736 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2020-02-21 | no assertion criteria provided | clinical testing |