ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)

gnomAD frequency: 0.00003  dbSNP: rs146941428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199182 SCV000250263 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing Identified in an infant with multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) who was compound heterozygous for two variants in the PIGT gene, and also carried the p.(R245W) de novo variant in the FBN2 gene, as well as two missense variants in the ATP10A gene (Mason et al., 2019); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on 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 (Frederic et al., 2009); This variant is associated with the following publications: (PMID: 30813157)
Invitae RCV000459579 SCV000553202 benign Congenital contractural arachnodactyly 2023-08-10 criteria provided, single submitter clinical testing

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