ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.1034-1dup (rs1238918084)

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
Counsyl RCV000667391 SCV000791828 likely pathogenic Non-ketotic hyperglycinemia 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV001008903 SCV001168709 likely pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing The c.1034dupG variant in the AMT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1034dupG variant causes a frameshift starting with codon Threonine 346, changes this amino acid to a Tyrosine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Thr346TyrfsX4. This variant replaces the last 58 amino acids with 3 incorrect residues, and is predicted to cause loss of normal protein function through protein truncation. Although not present in the homozygous state, the c.1034dupG variant is observed in 3/33,580 (0.0089%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016). We interpret c.1034dupG as a likely pathogenic variant.

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.