ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)

gnomAD frequency: 0.00001  dbSNP: rs546172367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310860 SCV000319277 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-06-24 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.
Invitae RCV000807074 SCV000947106 benign Congenital contractural arachnodactyly 2023-10-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812757 SCV001472400 uncertain significance not provided 2020-02-07 criteria provided, single submitter clinical testing The FBN2 c.4407G>A; p.Pro1469Pro variant (rs546172367), to our knowledge, is not reported in the medical literature but is reported with conflicting interpretations of pathogenicity in ClinVar (Variation ID: 263838). This variant is found on only three chromosomes (3/251314 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic splice site, although RNA analyses would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.4407G>A variant is uncertain at this time.

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