ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)

gnomAD frequency: 0.00002  dbSNP: rs751231315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547826 SCV001767620 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 affect a cysteine residue within this domain; 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV002568970 SCV003507576 likely benign Congenital contractural arachnodactyly 2022-09-04 criteria provided, single submitter clinical testing

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