ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)

gnomAD frequency: 0.00004  dbSNP: rs774798866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001143 SCV002269763 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497966 SCV002784422 uncertain significance 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 2022-02-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528348 SCV004357353 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-25 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1906 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 not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 11/282396 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.
All of Us Research Program, National Institutes of Health RCV004011064 SCV004814637 uncertain significance Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1906 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 not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 11/282396 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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