ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.909G>C (p.Gln303His) (rs1554877302)

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
GeneDx RCV000519208 SCV000620730 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing The Q303H (c.909 G>C) variant has not been published as pathogenic or been reported as benign to our knowledge. The Q303H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant may be functionally significant at the protein level or the mRNA level. At the protein level, Q303H is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species, although histidine (H) is tolerated at this position in at least one species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. At the mRNA level, the c.909 G>C variant occurs within the last nucleotide of exon 3 at a position where the guanine (G) nucleotide is conserved in mammals, and in silico splice prediction programs predict that c.909 G>C destroys the natural splice donor site of intron 3 which may lead to abnormal splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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.