ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7366A>C (p.Asn2456His)

dbSNP: rs2141226433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534074 SCV001750969 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed 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 FBN1 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 FBN1-related disorders (Collod-Beroud et al., 2003)
Ambry Genetics RCV003161071 SCV003863078 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-15 criteria provided, single submitter clinical testing The p.N2456H variant (also known as c.7366A>C), located in coding exon 59 of the FBN1 gene, results from an A to C substitution at nucleotide position 7366. The asparagine at codon 2456 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004008919 SCV004837619 uncertain significance Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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