ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)

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 RCV002471585 SCV002768963 uncertain significance Perrault syndrome 2 2022-02-02 criteria provided, single submitter clinical testing A heterozygous deletion variant was identified, NM_012208.3(HARS2):c.1450_1451delinsC in exon 12 of 13 of the HARS2 gene. This deletion is predicted to cause a frameshift from amino acid position 484 introducing a stop codon 35 residues downstream, NP_036340.1(HARS2):p.(Ser484Profs*35), resulting in an extension of the reading frame. The variant is present in the gnomAD population database at a frequency of 0.0025% (7 heterozygotes, 0 homozygotes). It has not been previously observed in clinical cases. No other variants predicted to cause an extension of the reading frame have been reported in a clinical testing setting. Based on information available at the time of curation, this variant has been classified as a 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.