ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)

gnomAD frequency: 0.00006  dbSNP: rs766271753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338866 SCV001532569 likely benign Congenital contractural arachnodactyly 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001776205 SCV002013316 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense 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).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 1035926; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 12938084, 18767143)

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