ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) (rs374507398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534366 SCV000630259 uncertain significance Congenital contractural arachnodactyly 2020-06-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 2603 of the FBN2 protein (p.Phe2603Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs374507398, ExAC 0.02%). This variant has been reported in an individual affected with adolescent scoliosis (PMID: 24833718). ClinVar contains an entry for this variant (Variation ID: 155797). 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: Benign; Align-GVGD: Class C0). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000534366 SCV001319702 uncertain significance Congenital contractural arachnodactyly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311668 SCV001501944 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143897 SCV000188766 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2013-08-28 no assertion criteria provided clinical testing

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