ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)

dbSNP: rs121909016
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007573 SCV000924252 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Labcorp Genetics (formerly Invitae), Labcorp RCV000007573 SCV001584167 pathogenic Cystic fibrosis 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 311 of the CFTR protein (p.Phe311Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect CFTR protein function (PMID: 29805046, 30046002). This variant has been observed in several individuals affected with cystic fibrosis (PMID: 1284639, 9459534, 7539342, 24586523). ClinVar contains an entry for this variant (Variation ID: 7153). This variant is not present in population databases (ExAC no frequency).
Institute of Reproductive Genetics, University of Münster RCV001642201 SCV001860336 pathogenic Obstructive azoospermia 2021-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000007573 SCV002687390 pathogenic Cystic fibrosis 2015-04-30 criteria provided, single submitter clinical testing The p.F311L pathogenic mutation (also known as c.933C>G), located in coding exon 8 of the CFTR gene, results from a C to G substitution at nucleotide position 933. The phenylalanine at codon 311 is replaced by leucine, an amino acid with highly similar properties. This mutation has been reported in multiple studies in patients who have classic CF symptoms and elevated sweat chloride levels along with a second pathogenic mutation (Ferec et al. Nat Genet.1992;1(3):188-191, Jezequel et al. Clin Chem. 1995;41(6Pt1):833-5, Scotet et al. Hum Mutat.2003;22(1):105). Another study reported a patient with chronic pancreatitis who had this mutation in cis with p.V754M and deltaF508 on the other chromosome (Niel et al. Hum Mutat. 2006;27(7):716-7). Based on the supporting evidence, p.F311L is interpreted as a disease-causing mutation.
Baylor Genetics RCV003473025 SCV004213433 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-08-09 criteria provided, single submitter clinical testing
OMIM RCV000007573 SCV000027774 pathogenic Cystic fibrosis 1992-06-01 no assertion criteria provided literature only
Natera, Inc. RCV000007573 SCV001456055 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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