ClinVar Miner

Submissions for variant NM_020759.3(STARD9):c.5116A>G (p.Lys1706Glu)

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
Ambry Genetics RCV004188489 SCV003681467 uncertain significance not specified 2022-05-25 criteria provided, single submitter clinical testing The c.5116A>G (p.K1706E) alteration is located in exon 23 (coding exon 23) of the STARD9 gene. This alteration results from a A to G substitution at nucleotide position 5116, causing the lysine (K) at amino acid position 1706 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906595 SCV004724456 likely benign STARD9-related disorder 2022-09-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.