ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)

gnomAD frequency: 0.00001  dbSNP: rs758659538
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560109 SCV000630215 likely benign Congenital contractural arachnodactyly 2023-05-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001573843 SCV003834024 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV001573843 SCV004039702 uncertain significance not provided 2023-10-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); 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); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573843 SCV001800281 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573843 SCV001809116 uncertain significance not provided no assertion criteria provided clinical testing

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