ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)

gnomAD frequency: 0.00003  dbSNP: rs762615993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528526 SCV000630181 likely benign Congenital contractural arachnodactyly 2023-05-20 criteria provided, single submitter clinical testing
GeneDx RCV003441919 SCV004167754 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; 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: 18767143)

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