ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)

gnomAD frequency: 0.00004  dbSNP: rs775844150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525560 SCV000630221 likely benign Congenital contractural arachnodactyly 2022-07-24 criteria provided, single submitter clinical testing
GeneDx RCV003231526 SCV003930074 uncertain significance not provided 2022-12-01 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: 31506931)

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