Submissions for variant NM_000138.5(FBN1):c.6164-5T>C

dbSNP: rs2043085940

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002204526	SCV002495771	uncertain significance	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	2021-03-30	criteria provided, single submitter	clinical testing	FBN1 NM_000138.4 exon 51 c.6164-5T>C: This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003101218	SCV003509575	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-10-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004005527	SCV004827957	likely benign	Marfan syndrome	2023-12-13	criteria provided, single submitter	clinical testing