Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594573 | SCV000705100 | uncertain significance | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000634068 | SCV000755346 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 446 of the FKTN protein (p.Asn446Ser). This variant is present in population databases (rs374912618, gnomAD 0.04%). 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: 499551). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Fulgent Genetics, |
RCV000766042 | SCV000897481 | 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 | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384299 | SCV002694506 | uncertain significance | Cardiovascular phenotype | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.N446S variant (also known as c.1337A>G), located in coding exon 9 of the FKTN gene, results from an A to G substitution at nucleotide position 1337. The asparagine at codon 446 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Revvity Omics, |
RCV000594573 | SCV003832703 | uncertain significance | not provided | 2020-05-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000634068 | SCV002081990 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2020-07-02 | no assertion criteria provided | clinical testing |