ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) (rs139668142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244909 SCV000317733 uncertain significance Cardiovascular phenotype 2012-09-25 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000685075 SCV000812547 uncertain significance Congenital contractural arachnodactyly 2019-05-25 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2026 of the FBN2 protein (p.Ser2026Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs139668142, ExAC 0.03%). This variant has not been reported in the literature in individuals with FBN2-related disease. ClinVar contains an entry for this variant (Variation ID: 263401). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C1). 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. 5
Fulgent Genetics,Fulgent Genetics RCV000765798 SCV000897188 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2018-10-31 criteria provided, single submitter clinical testing

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