ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) (rs137854471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812017 SCV000952315 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1242 of the FBN1 protein (p.Cys1242Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with Marfan syndrome (PMID: 8136837, 10486319) and has been observed in additional individuals affected with Marfan syndrome (PMID: 9401003, 19002209, 27906200). This variant is also known as C344Y in the literature. ClinVar contains an entry for this variant (Variation ID: 16429). This variant has been reported to affect FBN1 protein function (PMID: 27893734). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017891 SCV000038170 pathogenic Marfan syndrome 1994-01-01 no assertion criteria provided literature only
Center for Medical Genetics Ghent,University of Ghent RCV000017891 SCV000786991 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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