ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) (rs121908768)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000759769 SCV000331527 pathogenic not provided 2013-11-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000047290 SCV000697058 pathogenic Cystic fibrosis 2016-12-28 criteria provided, single submitter clinical testing Variant summary: The CFTR c.935_937delTCT (p.Phe312del) variant, alternatively also known as deltaF311, involves the deletion of three conserved nucleotides and results into in-frame deletion of one phenyl alanine from a repetitive sequence of three phenyl analine. The variant is located in ABC transporter type 1, transmembrane domain of the protein (InterPro). This variant was found in 5/121018 control chromosomes at a frequency of 0.0000413, which does not exceed the estimated m maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant is widely reported as pathogenic variant in literature and has been reported in several CF patients, mainly in African American and Hispanic origin, with concordant genotypes. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759769 SCV000889318 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002513 SCV001160472 likely pathogenic not specified 2019-04-11 criteria provided, single submitter clinical testing The CFTR c.935_937delTCT; p.Phe312del variant (rs121908768), also known as F311del, is reported in the literature in multiple individuals affected with cystic fibrosis and has been found in affected individuals in trans to the pathogenic p.Phe508del variant (Friedman 1998, Meitinger 1993). The p.Phe312del variant is also commonly observed in African-American and Hispanic cystic fibrosis patients (Kharrazi 2015, Schrijver 2005, Sugarman 2004, Watts 2012). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 48704), and it is found in the general population with an overall allele frequency of 0.008% (19/251076 alleles, including one homozygote) in the Genome Aggregation Database. This variant deletes a highly conserved phenylalanine residue, leaving the rest of the protein in-frame. Based on available information, the p.Phe312del variant is considered to be likely pathogenic. References: Friedman K et al. Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet. 1998 62(1):195-6. Kharrazi M et al. Newborn Screening for Cystic Fibrosis in California. Pediatrics. 2015 Dec;136(6):1062-72. Meitinger T et al. In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene. Hum Mol Genet. 1993 2(12):2173-4. Schrijver I et al. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May;7(2):289-99. Sugarman EA et al. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med. 2004 Sep-Oct;6(5):392-9. Watts KD et al. Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program. J Genet Couns. 2012 Oct;21(5):671-5.
Baylor Genetics RCV001004242 SCV001163118 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Counsyl RCV000047290 SCV001132361 likely pathogenic Cystic fibrosis 2017-05-26 no assertion criteria provided clinical testing

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