ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)

gnomAD frequency: 0.00001  dbSNP: rs756798856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807792 SCV000947866 likely benign Congenital contractural arachnodactyly 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV002462170 SCV002757317 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2008; Frederic et al., 2009); Not located within exons 24-33, where the majority of pathogenic variants reported to date occur (Callewaert et al., 2008, Frederic et al., 2009)

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