ClinVar Miner

Submissions for variant NM_000411.8(HLCS):c.722G>C (p.Gly241Ala) (rs1057516035)

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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408618 SCV000484429 likely pathogenic Holocarboxylase synthetase deficiency 2015-07-21 criteria provided, single submitter clinical testing This homozygous variant was identified in a patient with biochemical features of HLCS deficiency. This substitution is predicted to result in a change of a glycine to an alanine at position 241, NP_00402.3, p.(Gly241Ala). The amino acid at this position is highly conserved, and in a functional domain (GAT_1, type 1 glutamine amidotransferase-like domain). This substitution is predicted to be disease-causing by in-silico models, and is novel. Another substitution at the same position, p.(Gly241Trp) has been reported as disease-causing in another family (De Castro et al 2015, JIMD 20:1-4).

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.