ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) (rs145540754)

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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 RCV000174684 SCV000226032 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000674884 SCV000800292 uncertain significance Cystic fibrosis 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV000674884 SCV001010393 likely benign Cystic fibrosis 2020-10-23 criteria provided, single submitter clinical testing
Mendelics RCV000674884 SCV001137482 uncertain significance Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014353 SCV001175051 uncertain significance Inborn genetic diseases 2019-09-11 criteria provided, single submitter clinical testing The p.F693L variant (also known as c.2079T>G), located in coding exon 14 of the CFTR gene, results from a T to G substitution at nucleotide position 2079. The phenylalanine at codon 693 is replaced by leucine, an amino acid with highly similar properties. Another nucleotide change, c.2077T>C, which results in the same amino acid change, has been reported in the literature. <span style="background-color:initial">This variant was observed in two unrelated patients affected with cystic fibrosis-like symptoms; however, a second CFTR alteration was not detected (Mutesa L et al. Chest, 2009 May;135:1233-42<span style="background-color:initial">). This alteration was also identified in conjunction with p.F508del in an individual with pancreatic insufficient cystic fibrosis; however, the phase was not provided (Boyne J et al. J Med Genet. 2000;37(7):543-7). <span style="background-color:initial">An in vitro functional study found that this variant did not significantly affect chloride transportation or the maturation of the protein (Vankeerberghen A et al. Hum. Mol. Genet., 1998 Oct;7:1761-9<span style="background-color:initial">). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on available evidence to date, the clinical significance of this alteration remains unclear.
Nilou-Genome Lab RCV000674884 SCV001653331 uncertain significance Cystic fibrosis 2021-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000174684 SCV001714841 uncertain significance not provided 2020-03-06 criteria provided, single submitter clinical testing

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