ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)

gnomAD frequency: 0.00001  dbSNP: rs774698871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182991 SCV001348635 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-16 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 2397 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 5/251066 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 RCV001295872 SCV001484823 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497641 SCV002776643 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 2021-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528404 SCV004107894 uncertain significance FBN1-related disorder 2023-08-24 criteria provided, single submitter clinical testing The FBN1 c.7189A>G variant is predicted to result in the amino acid substitution p.Met2397Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-48719779-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
All of Us Research Program, National Institutes of Health RCV004008344 SCV004822400 uncertain significance Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 2397 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 5/251066 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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