ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) (rs146166400)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 Thoracic aortic aneurysm and aortic dissection 2017-09-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659578 SCV000781415 uncertain significance Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000632044 SCV000753147 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-09-07 criteria provided, single submitter clinical testing
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 variant has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Asn2449Ser variant may not impact 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 Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146166400). Although this data supports that the Asn2449Ser variant may be benign, additional studies are needed to fully assess its clinical significance.

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