ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.164+5A>G (rs397515760)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763971 SCV000894922 uncertain significance Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000796432 SCV000935945 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-07-06 criteria provided, single submitter clinical testing 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs397515760, ExAC 0.02%). This variant has been observed in an individual with clinical symptoms suggestive of Marfan syndrome, Loeys-Dietz syndrome, or thoracic aortic aneurysm and dissection (PMID: 24793577). ClinVar contains an entry for this variant (Variation ID: 42289). Nucleotide substitutions within 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035122 SCV000058762 uncertain significance not specified 2008-03-04 criteria provided, single submitter clinical testing

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