ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)

gnomAD frequency: 0.00001  dbSNP: rs373370945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055592 SCV001219992 benign Congenital contractural arachnodactyly 2022-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001759802 SCV001986096 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing Reported in patient with severe adolescent idiopathic scoliosis (Buchan et al., 2014); 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); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24833718)

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