ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)

dbSNP: rs148971572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972111 SCV002213822 benign Congenital contractural arachnodactyly 2023-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746528 SCV005351442 uncertain significance FBN2-related disorder 2024-05-17 no assertion criteria provided clinical testing The FBN2 c.809G>T variant is predicted to result in the amino acid substitution p.Arg270Leu. This variant was reported in an individual with aortic dissection (Stanford type A); however, this individual also carried a rare TGFB3 missense variant (patient A246, Chen et al. 2021. PubMed ID: 34422331). This variant was also documented in an idiopathic scoliosis cohort (Lin et al. 2022. PubMed ID: 36675693). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD and is interpreted as benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1435127/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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