ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1173A>T (p.Thr391=)

gnomAD frequency: 0.00001  dbSNP: rs766032673
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163405 SCV000213947 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 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.
GeneDx RCV000435135 SCV000525078 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000530027 SCV000632686 likely benign Juvenile polyposis syndrome 2024-10-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163405 SCV000906004 likely benign Hereditary cancer-predisposing syndrome 2018-01-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000530027 SCV004835984 likely benign Juvenile polyposis syndrome 2023-12-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000530027 SCV005406369 benign Juvenile polyposis syndrome 2024-08-07 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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.