ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.13473G>C (p.Glu4491Asp)

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
Neuberg Centre For Genomic Medicine, NCGM RCV005065331 SCV005690583 uncertain significance Developmental delay with autism spectrum disorder and gait instability 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.13473G>C (p.Glu4491Asp) variant in HERC2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu4491Asp variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid at this position on HERC2 gene is predicted as conserved by PhyloP across 100 vertebrates. The amino acid Glu at position 4491 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.