ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)

dbSNP: rs747213800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587931 SCV000695624 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.8582A>T (p.Asn2861Ile) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO and Mutation Taster not captured due to low reliability index/p-value). This variant is absent in 120816 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV002530898 SCV003488409 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002414 SCV004833164 uncertain significance Marfan syndrome 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces asparagine with isoleucine at codon 2861 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 1/251126 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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