ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2296del (p.Ile766fs)

dbSNP: rs2141305162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564821 SCV001788045 pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19293843, 12938084, 17657824)
Labcorp Genetics (formerly Invitae), Labcorp RCV002570752 SCV003302331 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile766Leufs*6) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1199957). For these reasons, this variant has been classified as Pathogenic.

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