Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055264 | SCV001219649 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-07-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 125 of the FKTN protein (p.Gly125Asp). This variant is present in population databases (rs142783718, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal recessive dilated cardiomyopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 850972). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV002348412 | SCV002622157 | uncertain significance | Cardiovascular phenotype | 2021-12-03 | criteria provided, single submitter | clinical testing | The p.G125D variant (also known as c.374G>A), located in coding exon 4 of the FKTN gene, results from a G to A substitution at nucleotide position 374. The glycine at codon 125 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001055264 | SCV002079565 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2020-03-11 | no assertion criteria provided | clinical testing |