ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)

gnomAD frequency: 0.00001  dbSNP: rs187786356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699624 SCV000828343 benign Congenital contractural arachnodactyly 2023-06-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279490 SCV002566580 uncertain significance Connective tissue disorder 2020-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002284430 SCV002574387 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on 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., 2009; Frederic et al., 2009); This variant is associated with the following publications: (PMID: 18767143, 19006240)

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