ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.164+5A>G

gnomAD frequency: 0.00003  dbSNP: rs397515760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035122 SCV000058762 uncertain significance not specified 2008-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763971 SCV000894922 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 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796432 SCV000935945 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 42289). This variant has been observed in individual(s) with clinical symptoms suggestive of Marfan syndrome, Loeys-Dietz syndrome, or thoracic aortic aneurysm and dissection (PMID: 24793577). This variant is present in population databases (rs397515760, gnomAD 0.02%). This sequence change falls in intron 2 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site.
Color Diagnostics, LLC DBA Color Health RCV001178635 SCV001343134 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing

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