ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)

gnomAD frequency: 0.00006  dbSNP: rs182651973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195754 SCV000250158 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in a male with dilated aortic root and features of a connective tissue disorder (Morgan et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; 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); This variant is associated with the following publications: (PMID: Morgan_2020_Article)
Labcorp Genetics (formerly Invitae), Labcorp RCV000633592 SCV000754838 benign Congenital contractural arachnodactyly 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000195754 SCV005188580 uncertain significance not provided criteria provided, single submitter not provided

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