ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) (rs146166400)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035270 SCV000058918 uncertain significance not specified 2012-10-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn2449Ser vari ant has not been reported in the literature nor previously identified by our lab oratory. Computational analyses (biochemical amino acid properties, conservatio n, AlignGVGD, PolyPhen2, and SIFT) suggest that the Asn2449Ser variant may not i mpact the protein, though this information is not predictive enough to rule out pathogenicity. In addition, this variant has been identified in 0.11% (5/4396) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146166400). Although th is data supports that the Asn2449Ser variant may be benign, additional studies a re needed to fully assess its clinical significance.
Invitae RCV001078925 SCV000753147 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-11-15 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659578 SCV000781415 uncertain significance Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756148 SCV000883870 likely benign not provided 2018-01-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770658 SCV000902116 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-12 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770658 SCV001352030 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-02 criteria provided, single submitter clinical testing

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