ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)

dbSNP: rs368089138
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181427 SCV000233729 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Does not affect a cysteine residue within a calcium-binding EGF-like domain or a TGF-binding protein domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12938084)
Labcorp Genetics (formerly Invitae), Labcorp RCV000697626 SCV000826247 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178813 SCV001343347 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 429 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 7/251256 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 RCV002500528 SCV002814921 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 2021-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996674 SCV004823062 uncertain significance Marfan syndrome 2024-01-03 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 429 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 cardiovascular disorders in the literature. This variant has been identified in 7/251256 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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