ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)

gnomAD frequency: 0.00001  dbSNP: rs373279555
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004869 SCV001164349 uncertain significance Allan-Herndon-Dudley syndrome 2018-12-03 criteria provided, single submitter research The hemizygous p.Ala150Thr variant in SLC16A2 was identified by our study in two siblings with Allan-Herndon-Dudley syndrome. The p.Ala150Thr variant in SLC16A2 has not been previously reported in individuals with Allan-Herndon-Dudley syndrome but has been identified in 0.001249% (1/80047) of European (non-Finnish) chromosomes, in 1 hemizygote, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs373279555), suggesting that this variant is not pathogenic for Allan-Herndon-Dudley syndrome. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Two additional variants at the the same position, p.Ala150Val and p.Ala150Glu, have been reported pathogenic and likely pathogenic in association with disease in ClinVar, supporting that a change at this position may not be tolerated (Variation ID: 11634, 159907). In summary, the clinical significance of the p.Ala150Thr variant is uncertain. ACMG/AMP Criteria applied: BS2, PM5, BP4 (Richards 2015).

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.