ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1244G>T (p.Gly415Val)

gnomAD frequency: 0.00001  dbSNP: rs996602317
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172805 SCV001335874 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002393383 SCV002668615 uncertain significance Inborn genetic diseases 2022-03-24 criteria provided, single submitter clinical testing The p.G415V variant (also known as c.1244G>T), located in coding exon 12 of the SBF2 gene, results from a G to T substitution at nucleotide position 1244. The glycine at codon 415 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.