ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.377G>A (p.Arg126His)

gnomAD frequency: 0.00004  dbSNP: rs528614556
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197044 SCV000250319 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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 substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); Not located within exons 24-33, where the majority of pathogenic variants reported to date occur (Callewaert et al., 2009, Frederic et al., 2009); This variant is associated with the following publications: (PMID: 19006240, 18767143)
Labcorp Genetics (formerly Invitae), Labcorp RCV001473209 SCV001677354 likely benign Congenital contractural arachnodactyly 2024-12-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277538 SCV002566573 uncertain significance Connective tissue disorder 2019-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323445 SCV004029366 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822014 SCV005585863 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-17 criteria provided, single submitter clinical testing The p.R126H variant (also known as c.377G>A), located in coding exon 3 of the FBN2 gene, results from a G to A substitution at nucleotide position 377. The arginine at codon 126 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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