ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3116A>T (p.Glu1039Val)

gnomAD frequency: 0.00001  dbSNP: rs1057524269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440752 SCV000535034 uncertain significance not provided 2019-04-24 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); Identified in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is absent at this time; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-silico splicing algorithms suggest this variant results in the creation of a cryptic splice donor site; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; 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 (Collod-Beroud et al., 2003; Frederic et al., 2009)

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