ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.672C>T (p.Asn224=)

gnomAD frequency: 0.00001  dbSNP: rs941148082
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659935 SCV000781839 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000908846 SCV001053627 likely benign Aortic aneurysm, familial thoracic 7 2023-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983160 SCV004797222 likely benign MYLK-related disorder 2022-07-14 criteria provided, single submitter 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).
Ambry Genetics RCV004649259 SCV005143212 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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.