ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) (rs397508634)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000577585 SCV000886365 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002282 SCV001160165 uncertain significance not specified 2018-12-13 criteria provided, single submitter clinical testing The CFTR c.3896C>T; p.Thr1299Ile variant (rs397508634), is reported in the literature in individuals with a suspected diagnosis of cystic fibrosis, including with the common pathogenic F508del variant on the opposite chromosome (Alonso 2007, Liechti-Gallati 1999, Ooi 2015, Rock 2005). This variant is reported in ClinVar (Variation ID: 53844), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The threonine at codon 1299 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Thr1299Ile variant is uncertain at this time. References: Alonso MJ et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201. Liechti-Gallati S et al. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet. 1999 Jul;7(5):590-8. Ooi CY et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics. 2015 Jun;135(6):e1377-85. Rock MJ et al. Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr. 2005 Sep;147(3 Suppl):S73-7.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577585 SCV000679390 not provided Cystic fibrosis no assertion provided literature only

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