ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) (rs2229326)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756136 SCV000883857 likely benign not provided 2017-07-30 criteria provided, single submitter clinical testing The c.6705A>C; p.Gly2235Gly variant (rs2229326) does not alter the amino acid sequence of the FBN1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with aortopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.02% (identified on 45 out of 276,754 chromosomes).. Based on the available information, the c.6705A>C variant is likely to be benign.
Center for Human Genetics, Inc RCV000680521 SCV000807913 likely benign Marfan syndrome 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000771859 SCV000904579 likely benign Thoracic aortic aneurysm and aortic dissection 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000181408 SCV000233710 benign not specified 2014-09-18 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.
Invitae RCV000551301 SCV000627972 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-09-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000181408 SCV000302579 benign not specified criteria provided, single submitter clinical testing

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