ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.272T>A (p.Ile91Asn)

dbSNP: rs869312141
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomenon, Inc, Genomenon, Inc RCV000209786 SCV006335940 likely pathogenic Fabry disease 2025-09-19 criteria provided, single submitter curation GLA p.Ile91Asn (c.272T>A) is a missense variant that changes the amino acid at residue 91 from Isoleucine to Asparagine. This variant has been observed in at least one proband affected with Fabry disease (PMID:26415523). At least one functional study has demonstrated a substantial alteration in protein function relative to the wild-type (PMID:26415523). It is absent or not present at a significant frequency in gnomAD. In silico models agree that this variant is possibly or probably damaging. In conclusion, we classify GLA p.Ile91Asn (c.272T>A) as a likely pathogenic variant.
Albrecht-Kossel-Institute, Medical University Rostock RCV000209224 SCV000246038 drug response Migalastat response 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute, Medical University Rostock RCV000209786 SCV000246037 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.