ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)

dbSNP: rs138046782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763135 SCV001991719 uncertain significance not provided 2019-08-02 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, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV002538822 SCV003455479 likely benign Congenital contractural arachnodactyly 2023-11-27 criteria provided, single submitter clinical testing

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