ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) (rs143863014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148488 SCV000190192 likely benign Marfan syndrome 2014-06-01 no assertion criteria provided research
Invitae RCV000530970 SCV000627984 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2414 of the FBN1 protein (p.Arg2414Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs143863014, ExAC 0.009%). This variant has been reported in the literature in two individuals from the same family with suspected Marfan syndrome (PMID: 16835936). ClinVar contains an entry for this variant (Variation ID: 161234). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000148488 SCV000267312 uncertain significance Marfan syndrome 2016-03-18 criteria provided, single submitter reference population

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