ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)

gnomAD frequency: 0.00006  dbSNP: rs758725993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594744 SCV000709164 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867991 SCV002263502 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483657 SCV002794069 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 2021-08-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002467 SCV004814650 uncertain significance Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with phenylalanine at codon 1839 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 cardiovascular disorders in the literature. This variant has been identified in 9/282656 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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