ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.1069G>A (p.Gly357Arg)

dbSNP: rs755744719
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364313 SCV001560453 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2020-08-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SPATA5-related conditions. 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. 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 expected to disrupt SPATA5 protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 357 of the SPATA5 protein (p.Gly357Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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.