ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1137_1141TAAAG[1] (p.Val381fs) (rs1595798033)

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 RCV001008201 SCV001167967 likely pathogenic not provided 2018-06-14 criteria provided, single submitter clinical testing The c.1142_1146delTAAAG variant in the HEXA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1142_1146delTAAAG variant causes a frameshift starting with codon Valine 381, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Val381AspfsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1142_1146delTAAAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1142_1146delTAAAG 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.