ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1710T>A (p.Cys570Ter) (rs193922183)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029699 SCV000052352 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000589677 SCV000695465 likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.1710T>A (p.Cys570X) variant results in a premature termination codon, predicted to cause a truncated or absent FBN1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Arg2394X, p.Cys2390fsX15, p.Met2347fsX19, etc.). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121126 control chromosomes, and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together and due to the nature of this variant, this nonsense FBN1 variant is classified as Likely Pathogenic.

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