ClinVar Miner

Submissions for variant NC_000015.9:g.(?_48695060)_(48703482_?)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 RCV001951069 SCV002238880 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-06-10 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 66 (c.8321_*8127del) of the FBN1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals with FBN1-related conditions. This variant disrupts the C-terminus of the FBN1 protein. Other variant(s) that disrupt this region (p.Gly2859Valfs*4) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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