ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr)

dbSNP: rs863223559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195442 SCV000250175 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frederic et al., 2009); Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV001563604 SCV001786579 uncertain significance Congenital contractural arachnodactyly 2020-10-29 criteria provided, single submitter clinical testing The FBN2 c.2779G>A (p.Ala927Thr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found in a single allele in the Genome Aggregation Database, in a region of good sequence coverage and hence is presumed to be rare. In silico tools predict the variant to be damaging. Based on the limited evidence, the p.Ala927Thr variant is classified as a variant of uncertain significance for congenital contractural arachnodactyly.
Fulgent Genetics, Fulgent Genetics RCV002492891 SCV002800780 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2021-10-12 criteria provided, single submitter clinical testing

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