ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn)

dbSNP: rs1555397648
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Total submissions: 1
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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 RCV000614439 SCV000712295 uncertain significance not specified 2016-07-13 criteria provided, single submitter clinical testing The p.Thr1401Asn variant in FBN1 has not been previously reported in individuals with pulmonary disease or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr1401As n variant is uncertain.

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