ClinVar Miner

Submissions for variant NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)

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
Ambry Genetics RCV004364905 SCV004959497 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.1631A>G (p.N544S) alteration is located in exon 14 (coding exon 13) of the STT3A gene. This alteration results from an A to G substitution at nucleotide position 1631, causing the asparagine (N) at amino acid position 544 to be replaced by a serine (S). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Undiagnosed Diseases Network, NIH RCV003493389 SCV004242209 uncertain significance Congenital disorder of glycosylation, type Iw, autosomal dominant 2023-02-17 no assertion criteria provided clinical testing CDG tandem mass spectrometry and found a unique profile consistent with that of CDG Type Iw.

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.