ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)

dbSNP: rs1280320763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839131 SCV002099048 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545220 SCV003293262 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009167 SCV004828314 uncertain significance Marfan syndrome 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with proline at codon 2614 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 1/251062 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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