ClinVar Miner

Submissions for variant NM_001613.4(ACTA2):c.417G>A (p.Gln139=)

gnomAD frequency: 0.00305  dbSNP: rs111265233
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342744 SCV000365840 likely benign Multisystemic smooth muscle dysfunction syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392308 SCV000365841 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284041 SCV000365842 likely benign Moyamoya disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557889 SCV000646313 benign Aortic aneurysm, familial thoracic 6 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000392308 SCV000738462 benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000392308 SCV000902096 benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000392308 SCV000913735 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001683216 SCV001156883 benign not provided 2023-09-25 criteria provided, single submitter clinical testing
GeneDx RCV001683216 SCV001900050 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001000272 SCV004029330 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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