ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3837A>G (p.Val1279=)

gnomAD frequency: 0.00004  dbSNP: rs59007872
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719068 SCV000728417 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181637 SCV001346820 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181637 SCV002626009 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002498967 SCV002804319 likely benign 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 2021-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767725 SCV004573423 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-08-18 criteria provided, single submitter clinical testing This sequence change affects codon 1279 of the FBN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs59007872, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 516066). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004002598 SCV004814774 likely benign Marfan syndrome 2024-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719068 SCV005212672 likely benign not provided criteria provided, single submitter not provided

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