ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2836G>T (p.Ala946Ser)

dbSNP: rs886038950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310865 SCV000319313 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-06-22 criteria provided, single submitter clinical testing The p.A946S variant (also known as c.2836G>T), located in coding exon 22 of the FBN2 gene, results from a G to T substitution at nucleotide position 2836. The alanine at codon 946 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in 3 vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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