ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)

gnomAD frequency: 0.00001  dbSNP: rs758035051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659504 SCV000781323 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180614 SCV001345580 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-25 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 305 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Marfan syndrome, as well as in the proband's asymptomatic brother and two unrelated, unaffected individuals (PMID: 27175573). This variant was also detected in an individual who had mitral valve prolapse and bicuspid aortic valve (PMID: 33064175). This variant has been identified in 7/282826 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002534319 SCV003469832 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-02-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004197 SCV004823100 uncertain significance Marfan syndrome 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 305 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Marfan syndrome, as well as in the proband's asymptomatic brother and two unrelated, unaffected individuals (PMID: 27175573). This variant was also detected in an individual who had mitral valve prolapse and bicuspid aortic valve (PMID: 33064175). This variant has been identified in 7/282826 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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