ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2793G>T (p.Gly931=)

gnomAD frequency: 0.00006  dbSNP: rs775785545
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000756141 SCV000533785 likely benign not provided 2022-05-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089228 SCV000753165 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756141 SCV000883862 likely benign not provided 2018-02-20 criteria provided, single submitter clinical testing The c.2793G>T; p.Gly931Gly variant (rs775785545) does not alter the amino acid sequence of the FBN1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with aortopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.001% (identified on 4 out of 277,208 chromosomes), and is classified as likely benign in ClinVar (ID: 390855). Based on the available information, the c.2793G>T variant is likely to be benign.
Color Diagnostics, LLC DBA Color Health RCV001182763 SCV001348325 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001182763 SCV002041963 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298589 SCV002598554 likely benign not specified 2022-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182763 SCV002747943 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-13 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.
All of Us Research Program, National Institutes of Health RCV004000550 SCV004814868 likely benign Marfan syndrome 2023-12-18 criteria provided, single submitter clinical testing

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