ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu)

gnomAD frequency: 0.00001  dbSNP: rs747318909
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001304861 SCV001494164 likely benign GM3 synthase deficiency 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544985 SCV003683720 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.957T>G (p.F319L) alteration is located in exon 6 (coding exon 6) of the ST3GAL5 gene. This alteration results from a T to G substitution at nucleotide position 957, causing the phenylalanine (F) at amino acid position 319 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001304861 SCV005878712 uncertain significance GM3 synthase deficiency 2024-10-25 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV002464446 SCV002760027 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-08-2021 by Lab or GTR ID 500031. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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.