ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)

gnomAD frequency: 0.00001  dbSNP: rs765437414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536277 SCV000630216 likely benign Congenital contractural arachnodactyly 2023-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001591205 SCV001814809 uncertain significance not provided 2020-12-14 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 supports that this missense variant has a deleterious effect on protein structure/function; 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 (Frederic et al., 2009); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 458756; Landrum et al., 2016)

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