Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799124 | SCV000938773 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 392 of the FKTN protein (p.Tyr392His). This variant is present in population databases (rs752191412, gnomAD 0.0009%). 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: 645102). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. |
Ambry Genetics | RCV002332617 | SCV002628008 | uncertain significance | Cardiovascular phenotype | 2019-03-27 | criteria provided, single submitter | clinical testing | The p.Y392H variant (also known as c.1174T>C), located in coding exon 9 of the FKTN gene, results from a T to C substitution at nucleotide position 1174. The tyrosine at codon 392 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Ce |
RCV003456432 | SCV004184812 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FKTN: PM2, PP3 |
Mayo Clinic Laboratories, |
RCV003456432 | SCV004225073 | uncertain significance | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing | PP3, PM2_supporting |
Natera, |
RCV000799124 | SCV002081971 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2020-12-31 | no assertion criteria provided | clinical testing |