ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287799 SCV001474529 uncertain significance none provided 2019-09-13 criteria provided, single submitter clinical testing The FBN2 c.8675A>G; p.Asp2892Gly variant (rs768293070), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the general population with an overall allele frequency of 0.004% (9/251178 alleles) in the Genome Aggregation Database. The aspartate at codon 2892 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Asp2892Gly variant is uncertain at this time.
GeneDx RCV001574931 SCV001801823 uncertain significance not provided 2021-06-01 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. 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 (Frederic et al., 2009); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 994415; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 18767143, 27535533)

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