ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn) (rs781528826)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654181 SCV000776071 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 392 of the FGD4 protein (p.Ser392Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs781528826, ExAC 0.01%). This variant has not been reported in the literature in individuals with FGD4-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GenomeConnect - Invitae Patient Insights Network RCV001535472 SCV001749395 not provided Charcot-Marie-Tooth disease, type 4H no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-20-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.