ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)

gnomAD frequency: 0.00026  dbSNP: rs146030104
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198185 SCV000250914 benign not specified 2015-05-01 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.
Illumina Laboratory Services, Illumina RCV000388377 SCV000442859 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296285 SCV000442860 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348846 SCV000442861 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000348846 SCV001342795 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000348846 SCV001728777 benign Familial thoracic aortic aneurysm and aortic dissection 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000348846 SCV003866326 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-15 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.
All of Us Research Program, National Institutes of Health RCV003996924 SCV004839201 likely benign Loeys-Dietz syndrome 2 2024-02-05 criteria provided, single submitter clinical testing

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