ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) (rs199910288)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000290426 SCV000344132 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659629 SCV000781469 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000696153 SCV000824701 uncertain significance Congenital contractural arachnodactyly 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2328 of the FBN2 protein (p.Ala2328Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs199910288, ExAC 0.01%). This variant has not been reported in the literature in individuals with FBN2-related disease. ClinVar contains an entry for this variant (Variation ID: 289728). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000290426 SCV001335139 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199020 SCV001370015 uncertain significance Macular degeneration, early-onset 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000290426 SCV001798763 likely benign not provided no assertion criteria provided clinical testing

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