ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)

gnomAD frequency: 0.00011  dbSNP: rs138389072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433947 SCV000536413 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frederic et al., 2009); Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 393057; Landrum et al., 2016)
Ambry Genetics RCV002313150 SCV000738957 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-27 criteria provided, single submitter clinical testing The p.N551D variant (also known as c.1651A>G), located in coding exon 12 of the FBN2 gene, results from an A to G substitution at nucleotide position 1651. The asparagine at codon 551 is replaced by aspartic acid, an amino acid with highly similar properties, and is located in the cbEGF-like #04 domain. This amino acid position is highly 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.
Invitae RCV002525519 SCV003268656 benign Congenital contractural arachnodactyly 2023-09-18 criteria provided, single submitter clinical testing

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