ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3464-6C>T

gnomAD frequency: 0.00006  dbSNP: rs375596551
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 2019-09-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184495 SCV001350474 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001393044 SCV001594696 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001184495 SCV002041970 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995687 SCV004823492 likely benign Marfan syndrome 2023-12-18 criteria provided, single submitter clinical testing

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