ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) (rs1555398625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770677 SCV000902139 pathogenic Thoracic aortic aneurysm and aortic dissection 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000808781 SCV000948901 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1101 of the FBN1 protein (p.Tyr1101Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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: 12402346, 16222657, 16596670) and in additional individuals with Marfan syndrome (PMID: 11700157, 28941062, 19863550). ClinVar contains an entry for this variant (Variation ID: 549154). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent,University of Ghent RCV000663628 SCV000786950 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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