ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1323A>G (p.Pro441=)

gnomAD frequency: 0.00011  dbSNP: rs202030761
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228239 SCV000283605 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000430496 SCV000512988 benign not specified 2015-10-12 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.
Ambry Genetics RCV000771997 SCV000738829 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-12-23 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.
Color Diagnostics, LLC DBA Color Health RCV000771997 SCV000904953 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430496 SCV001572530 likely benign not specified 2024-03-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726059 SCV001961511 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000430496 SCV002066858 likely benign not specified 2021-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500755 SCV002804285 likely benign Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-07-03 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663450 SCV000786743 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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