ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)

gnomAD frequency: 0.00031  dbSNP: rs142214506
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766846 SCV000531406 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000430502 SCV000593444 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000766846 SCV001143067 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000766846 SCV003504899 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing 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 not expected to disrupt ASPM protein function. ClinVar contains an entry for this variant (Variation ID: 388993). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This variant is present in population databases (rs142214506, gnomAD 0.09%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1258 of the ASPM protein (p.Ala1258Thr).

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.