ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3297C>A (rs747754623)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000586297 SCV000340215 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586297 SCV000696954 uncertain significance not provided 2016-01-06 criteria provided, single submitter clinical testing
Counsyl RCV000668621 SCV000793254 uncertain significance Cystic fibrosis 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000668621 SCV000936150 uncertain significance Cystic fibrosis 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1099 of the CFTR protein (p.Phe1099Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs747754623, ExAC 0.05%). This variant has been observed in several individuals with clinical features of cystic fibrosis (PMID: 16189704, 26098992). ClinVar contains an entry for this variant (Variation ID: 286681). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586297 SCV001134136 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004492 SCV001163537 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000586297 SCV001450425 likely pathogenic not provided 2019-05-17 criteria provided, single submitter clinical testing

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