ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6497-12G>C

gnomAD frequency: 0.00001  dbSNP: rs369726558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437392 SCV000530133 likely benign not specified 2016-07-21 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 Diagnostics, LLC DBA Color Health RCV001179854 SCV001344643 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000437392 SCV001467743 likely benign not specified 2020-12-28 criteria provided, single submitter clinical testing Variant summary: FBN1 c.6497-12G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 251042 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6497-12G>C in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522406 SCV002945395 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000488 SCV004828402 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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