ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)

dbSNP: rs863223565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200568 SCV000250192 uncertain significance not provided 2023-01-25 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); 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); This variant is associated with the following publications: (PMID: 19006240, 18767143)
Invitae RCV002517176 SCV003498071 likely benign Congenital contractural arachnodactyly 2022-04-13 criteria provided, single submitter clinical testing

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