ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)

gnomAD frequency: 0.00004  dbSNP: rs562268545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493208 SCV000581959 uncertain significance not provided 2019-10-18 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, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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 (Frederic et al., 2009)
Invitae RCV001068745 SCV001233876 benign Congenital contractural arachnodactyly 2023-09-14 criteria provided, single submitter clinical testing

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