ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) (rs769474473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659623 SCV000781462 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001545405 SCV001764731 uncertain significance not provided 2020-02-21 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; Reported in ClinVar (ClinVar Variant ID# 547360; Landrum et al., 2016); 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 (Collod-Beroud et al., 2003; Frederic et al., 2009)

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