ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)

gnomAD frequency: 0.00002  dbSNP: rs773011327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199848 SCV000250143 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Does not occur within a calcium-binding-EGF-like domain (Callewaert et al., 2009, Frederic et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143)
Invitae RCV000541110 SCV000630182 likely benign Congenital contractural arachnodactyly 2023-07-20 criteria provided, single submitter clinical testing

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