ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)

dbSNP: rs1566913983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524026 SCV001733784 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-28 criteria provided, single submitter clinical testing This missense variant replaces leucine with proline at codon 647 of the FBN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 1/251448 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.
Fulgent Genetics, Fulgent Genetics RCV002506642 SCV002816363 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 2021-09-30 criteria provided, single submitter clinical testing
Invitae RCV003106227 SCV003781925 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-25 criteria provided, single submitter clinical testing

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