ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.979G>C (p.Asp327His)

gnomAD frequency: 0.00002  dbSNP: rs150326189
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
Eurofins Ntd Llc (ga) RCV000732898 SCV000860896 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001307389 SCV001496801 uncertain significance UDPglucose-4-epimerase deficiency 2020-04-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GALE-related conditions. ClinVar contains an entry for this variant (Variation ID: 596921). This variant is present in population databases (rs150326189, ExAC 0.01%). This sequence change replaces aspartic acid with histidine at codon 327 of the GALE protein (p.Asp327His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine.

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.