ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.739G>T (p.Val247Phe)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001391225 SCV001593118 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2021-03-17 criteria provided, single submitter clinical testing A homozygous missense variant in exon 7 of the GALC gene that results in the amino acid substitution of Phenylalanine for Valine at codon 247 was detected. The observed variant c.739G>T (p.Val247Phe) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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.