ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)

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
Invitae RCV001040148 SCV001203709 uncertain significance Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 265 of the B3GALT6 protein (p.Glu265Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with B3GALT6-related skeletal dysplasia (25149931, 29931299). This variant has been reported to affect B3GALT6 protein function (PMID: 29931299). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV001089598 SCV001245062 pathogenic Al-Gazali syndrome 2020-04-27 no assertion criteria provided literature only

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.