ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) (rs61730054)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029736 SCV000052389 uncertain Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035201 SCV000058843 likely benign not specified 2018-12-31 criteria provided, single submitter clinical testing The p.Ser1481Gly variant in FBN1 is classified as likely benign because it has b een identified in 0.4% (97/24962) of African chromosomes by gnomAD (http://gnoma d.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724063 SCV000229808 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515317 SCV000611391 uncertain significance Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617953 SCV000738752 likely benign Cardiovascular phenotype 2017-11-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Invitae RCV000632057 SCV000753160 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-10-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000029736 SCV000781370 likely benign Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000029736 SCV000803588 likely benign Marfan syndrome 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Marfan syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:21542060). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724063 SCV000883854 likely benign not provided 2017-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000724063 SCV000977387 likely benign not provided 2018-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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