ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.3675G>C (p.Gln1225His)

dbSNP: rs2059872004
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
Ambry Genetics RCV004108016 SCV003577428 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.3675G>C (p.Q1225H) alteration is located in exon 27 (coding exon 27) of the ERBB2 gene. This alteration results from a G to C substitution at nucleotide position 3675, causing the glutamine (Q) at amino acid position 1225 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.