ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3464-6C>T (rs375596551)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000590251 SCV000228687 uncertain significance not provided 2015-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590251 SCV000695514 likely benign not provided 2017-03-23 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.3464-6C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. These predictions have yet to be confirmed by functional studies. This variant was found in 16/121370 control chromosomes from ExAC at a frequency of 0.0001318, which is higher than the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. One clinical lab has classified it as variant of uncertain significance. Another similar variant c.3464-5C>T variant has been classified as benign by our laboratory. Taken together, this variant is currently classified as likely benign.
GeneDx RCV000590251 SCV000973966 likely benign not provided 2018-06-19 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.
Color Health, Inc RCV001184495 SCV001350474 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV001393044 SCV001594696 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-10-13 criteria provided, single submitter clinical testing

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