ClinVar Miner

Submissions for variant NC_000015.10:g.(?_48444521)_(48445524_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632074 SCV000753177 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-12-04 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 48-49 of the FBN1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with FBN1-related disease. Exons 48 and 49 code for the EGF-like domain 29 and 30, respectively. Similar single-exon subgenic deletions affecting entire EGF-like domains have been reported in individuals affected with Marfan syndrome (PMID: 25907466, 25944730, 11175294, 18412115). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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