ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)

gnomAD frequency: 0.00001  dbSNP: rs993464239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002016704 SCV002301339 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346293 SCV002651262 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-04-26 criteria provided, single submitter clinical testing The p.H1918R variant (also known as c.5753A>G), located in coding exon 46 of the FBN1 gene, results from an A to G substitution at nucleotide position 5753. The histidine at codon 1918 is replaced by arginine, an amino acid with highly similar properties, and is located in the cbEGF-like #28 domain. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486696 SCV002776648 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-10-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011136 SCV004825649 uncertain significance Marfan syndrome 2023-05-31 criteria provided, single submitter clinical testing

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