ClinVar Miner

Submissions for variant NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004206945 SCV003708343 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing The c.928G>A (p.E310K) alteration is located in exon 4 (coding exon 4) of the DACT1 gene. This alteration results from a G to A substitution at nucleotide position 928, causing the glutamic acid (E) at amino acid position 310 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004598253 SCV005093193 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DACT1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003928925 SCV004742144 benign DACT1-related disorder 2019-05-11 no assertion criteria provided clinical testing This variant is classified as 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.