ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)

gnomAD frequency: 0.00004  dbSNP: rs532983875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247075 SCV000319279 likely benign Cardiovascular phenotype 2014-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV001651299 SCV001863906 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518999 SCV003467870 uncertain significance Congenital contractural arachnodactyly 2024-07-03 criteria provided, single submitter clinical testing This sequence change affects codon 1114 of the FBN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs532983875, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 263840). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330609 SCV004038941 uncertain significance not specified 2023-08-10 criteria provided, single submitter clinical testing

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