ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.491del (p.Asn164fs)

dbSNP: rs2044515447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039332 SCV001202859 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-01-25 criteria provided, single submitter clinical testing Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This sequence change creates a premature translational stop signal (p.Asn164Ilefs*26) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBN1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012465 SCV005633074 pathogenic Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2024-06-12 criteria provided, single submitter clinical testing

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