ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1156A>C (p.Asn386His)

dbSNP: rs1597581597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797115 SCV000936657 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-03-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 386 of the FBN1 protein (p.Asn386His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBN1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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