ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) (rs397508357)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224113 SCV000280680 likely pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing
Counsyl RCV000675114 SCV000800665 uncertain significance Cystic fibrosis 2018-02-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002669 SCV001160657 uncertain significance not specified 2019-06-26 criteria provided, single submitter clinical testing The CFTR c.2252G>T; p.Arg751Leu variant (rs397508357) is reported in the literature in an individual affected with pancreatic-sufficient cystic fibrosis that also carried the pathogenic p.Phe508del variant (Goubau 2009). In testing performed at ARUP, the p.Arg751Leu variant has also been seen in a newborn with elevated sweat chloride that also carried a nonsense variant in CFTR. This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at codon 751 is moderately conserved and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Arg751Leu variant is uncertain at this time. References: Goubau C et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax. 2009 Aug;64(8):683-91.
Nilou-Genome Lab RCV000675114 SCV001822101 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001589163 SCV001822102 uncertain significance Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-07-22 criteria provided, single submitter clinical testing

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