ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1311A>G (p.Pro437=)

dbSNP: rs1253494702
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311859 SCV001502199 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001477050 SCV001681274 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525299 SCV001735358 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525299 SCV003863113 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-12 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 RCV004005058 SCV004823058 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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