ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)

dbSNP: rs1348701377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556628 SCV000630218 likely benign Congenital contractural arachnodactyly 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV003105946 SCV003762022 uncertain significance not provided 2022-12-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31506931, 19006240, 18767143)

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