ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)

dbSNP: rs753858988
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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 RCV003058468 SCV003442919 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 27906200). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1845*) 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).

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