ClinVar Miner

Submissions for variant NM_001613.4(ACTA2):c.165C>T (p.Tyr55=)

gnomAD frequency: 0.00003  dbSNP: rs747205071
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779682 SCV000916410 benign not specified 2018-04-16 criteria provided, single submitter clinical testing Variant summary: ACTA2 c.165C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 14 fold of the estimated maximal expected allele frequency for a pathogenic variant in ACTA2 causing Aortopathy phenotype (1.8e-05), strongly suggesting that the variant is a benign polymorphism. To our knowledge, no occurrence of c.165C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Color Diagnostics, LLC DBA Color Health RCV001184803 SCV001350877 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-21 criteria provided, single submitter clinical testing
Invitae RCV001467928 SCV001671960 likely benign Aortic aneurysm, familial thoracic 6 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184803 SCV002707182 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003424336 SCV004127053 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ACTA2: BP4, BP7

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.