ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1000-14T>C

gnomAD frequency: 0.00004  dbSNP: rs397515868
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035298 SCV000058946 likely benign not specified 2012-09-24 criteria provided, single submitter clinical testing 1000-14T>C in Intron 07 of GLA: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence.
Fulgent Genetics, Fulgent Genetics RCV002496526 SCV002808143 likely benign Fabry disease 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002496526 SCV003470414 likely benign Fabry disease 2024-03-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703191 SCV005210726 likely benign not provided criteria provided, single submitter not provided
All of Us Research Program, National Institutes of Health RCV002496526 SCV005426141 uncertain significance Fabry disease 2024-06-17 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the -14 position of intron 6 of the GLA gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with GLA-related disorders in the literature. This variant has been identified in 3/204206 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.