ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)

dbSNP: rs1275467420
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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 RCV002333144 SCV002627368 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-06-22 criteria provided, single submitter clinical testing The p.M1380I variant (also known as c.4140G>C), located in coding exon 32 of the FBN2 gene, results from a G to C substitution at nucleotide position 4140. The methionine at codon 1380 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003234179 SCV003931092 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); This variant is associated with the following publications: (PMID: 19006240, 18767143)

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