ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.-2C>A

gnomAD frequency: 0.00001  dbSNP: rs776371080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313301 SCV000738971 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-05-30 criteria provided, single submitter clinical testing The c.-2C>A variant is located in the 5' untranslated region (5’ UTR) of the FBN2 gene. This variant results from a C to A substitution two nucleotides upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV003226954 SCV003923854 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis suggests this variant does not impact splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge

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